Sarcoma Of Cervix Uteri

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Classifications

Harrison's Chapter

ICD-O Morphology

◆

Subtypes

3

Cervical Embryonal Rhabdomyosarcoma (Sarcoma Botryoides) NCIT:C8971

Embryonal rhabdomyosarcoma of the uterine cervix, the most common cervical sarcoma in children and young women. Often presents as a polypoid grape-like (botryoid) mass. Characteristically harbors somatic and frequently germline DICER1 mutations, the latter indicating DICER1 syndrome.

Leiomyosarcoma of the Cervix NCIT:C128047

A malignant smooth-muscle tumor of the cervix. Genomically complex with recurrent loss of TP53, RB1, PTEN, and ATRX pathways rather than a single recurrent fusion. Aggressive with a tendency for hematogenous spread.

Mullerian Adenosarcoma of the Cervix NCIT:C9474

A biphasic Mullerian tumor composed of a benign epithelial component and a malignant low-grade stromal (sarcomatous) component, with a characteristic phyllodes-like leaflike architecture and periglandular stromal cuffing. Prognosis is dominated by sarcomatous overgrowth and myometrial/deep stromal invasion.

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Pathophysiology

7

Mesenchymal Malignant Transformation

Cervical sarcomas arise from malignant transformation of cervical mesenchymal elements (smooth muscle, primitive skeletal muscle precursors, or endometrial/cervical stroma) rather than from epithelium. This mesenchymal origin distinguishes them from the epithelial cervical carcinomas and underlies their divergent biology and treatment.

mesenchymal stem cell CL:0000134

cell population proliferation GO:0008283 ↑ INCREASED

Downstream

DICER1 Loss of Function and miRNA Dysregulation In the embryonal rhabdomyosarcoma lineage, mesenchymal/myogenic precursor transformation is driven by DICER1 microRNA-processing defects.

Tumor Suppressor Loss and Genomic Complexity In the cervical leiomyosarcoma lineage, smooth-muscle transformation is driven by loss of major tumor suppressor pathways.

Sarcomatous Overgrowth in Adenosarcoma In the adenosarcoma lineage, malignant transformation is confined to the stromal component, whose expansion (sarcomatous overgrowth) governs aggressiveness.

Show evidence (1 reference)

PMID:33135284 SUPPORT Human Clinical

"Gynecologic sarcomas are uncommon neoplasms, the majority occurring in the uterus."

Supports the framing of cervical sarcomas as uncommon mesenchymal neoplasms within the broader group of gynecologic (uterine) sarcomas.

DICER1 Loss of Function and miRNA Dysregulation

DICER1 is a highly conserved ribonuclease essential for microRNA biogenesis. Somatic (and frequently germline) DICER1 mutations are the characteristic molecular lesion of cervical/uterine embryonal rhabdomyosarcoma. Loss of DICER1 function disrupts microRNA processing and the resulting post- transcriptional gene-silencing programs, derepressing growth-promoting targets and impairing myogenic differentiation of the rhabdomyoblastic tumor cells. Germline DICER1 variants define the DICER1 hereditary cancer predisposition syndrome.

skeletal muscle myoblast CL:0000515

miRNA processing GO:0035196 ↓ DECREASED miRNA-mediated post-transcriptional gene silencing GO:0035195 ⚠ ABNORMAL

Downstream

Impaired Myogenic Differentiation miRNA dysregulation derepresses proliferative programs and blocks terminal rhabdomyoblastic (skeletal muscle) differentiation.

DICER1 Syndrome Predisposition When the DICER1 loss-of-function lesion is germline, it manifests as the heritable DICER1 tumor-predisposition syndrome.

Show evidence (2 references)

PMID:33135284 SUPPORT Human Clinical

"DICER1 is a highly conserved ribonuclease crucial in the biogenesis of microRNAs and mutations in DICER1 (either somatic or germline) have been detected in a wide range of sarcomas including genitourinary embryonal rhabdomyosarcomas (ERMS) and adenosarcomas."

Directly supports DICER1 (a microRNA-biogenesis ribonuclease) loss-of- function mutation as the characteristic molecular lesion of gynecologic embryonal rhabdomyosarcoma.

PMID:31900434 SUPPORT Human Clinical

"We and others have reported that ERMS arising in the uterine cervix may harbor mutations in the gene encoding the microRNA biogenesis enzyme, DICER1"

Confirms that cervix-arising embryonal rhabdomyosarcoma harbors mutations in the microRNA-biogenesis enzyme DICER1.

Impaired Myogenic Differentiation

In cervical embryonal rhabdomyosarcoma the tumor cells are arrested as primitive rhabdomyoblasts that fail to complete terminal skeletal-muscle differentiation, while continuing to proliferate. Myogenin expression is often focal/variable, which can complicate diagnosis. This differentiation block, together with sustained proliferation, produces the small round/spindled rhabdomyoblastic tumor.

skeletal muscle myoblast CL:0000515

skeletal muscle cell differentiation GO:0035914 ↓ DECREASED regulation of cell population proliferation GO:0042127 ⚠ ABNORMAL

Downstream

Local Tumor Growth and Invasion Proliferating, poorly differentiated rhabdomyoblasts form an enlarging cervical mass that invades locally.

Show evidence (1 reference)

PMID:37215607 PARTIAL Human Clinical

"a vaginal cervical mass, initially classified as a müllerian endocervical polyp on negative myogenin immunostaining"

Illustrates that cervical ERMS rhabdomyoblasts may show negative/focal myogenin immunostaining, consistent with an immature, incompletely differentiated myogenic phenotype that can lead to initial misdiagnosis.

Tumor Suppressor Loss and Genomic Complexity

Cervical leiomyosarcoma, like leiomyosarcoma at other sites, is a genomically complex sarcoma defined by recurrent loss of major tumor-suppressor pathways rather than a single recurrent fusion. Frequent alterations involve TP53, RB1, PTEN, and ATRX, driving loss of cell-cycle and genome-stability control in the malignant smooth-muscle cells.

smooth muscle cell CL:0000192

smooth muscle cell differentiation GO:0051145 ⚠ ABNORMAL cell population proliferation GO:0008283 ↑ INCREASED

Downstream

Local Tumor Growth and Invasion Genomically unstable, proliferating malignant smooth-muscle cells form an invasive cervical mass with metastatic potential.

Show evidence (2 references)

PMID:26541895 SUPPORT Human Clinical

"Losses of chromosomal regions involving key tumor suppressor genes PTEN (10q), RB1 (13q), CDH1 (16q), and TP53 (17p) were the most frequent genetic events."

Supports recurrent tumor-suppressor loss (PTEN, RB1, TP53) as the core genomic feature of leiomyosarcoma, including the cervical site.

PMID:26692951 SUPPORT Human Clinical

"In conclusion, we identified loss of function of the p53 and ATRX pathways being the main mechanisms for leiomyosarcomas."

Directly supports disruption of the TP53 and ATRX pathways as central mechanisms in leiomyosarcoma.

Sarcomatous Overgrowth in Adenosarcoma

Mullerian adenosarcoma is a biphasic tumor with a benign epithelial component and a malignant low-grade stromal (sarcomatous) component, exhibiting a leaflike phyllodes-like architecture with periglandular cuffing. A minority of cases (~20%) harbor DICER1 alterations, overlapping with ERMS. Prognosis is governed by sarcomatous overgrowth - expansion of the high-grade stromal component beyond the biphasic pattern - and by depth of myometrial/stromal invasion.

fibroblast CL:0000057

cell population proliferation GO:0008283 ↑ INCREASED

Downstream

Local Tumor Growth and Invasion Sarcomatous overgrowth and deep stromal/myometrial invasion convert a low-grade lesion into a locally aggressive, recurrence-prone tumor.

Show evidence (2 references)

PMID:26927725 SUPPORT Human Clinical

"Müllerian adenosarcoma is an uncommon biphasic tumor composed of malignant stromal and benign epithelial components."

Directly supports the biphasic nature of adenosarcoma with a malignant stromal and benign epithelial component.

PMID:26927725 SUPPORT Human Clinical

"it is important to assess for the presence of sarcomatous overgrowth and myometrial invasion, which are the prognostic factors."

Supports sarcomatous overgrowth and invasion as the key prognostic drivers in adenosarcoma.

Local Tumor Growth and Invasion

Regardless of subtype, the proliferating malignant mesenchymal cells form an enlarging cervical mass that disrupts the cervical canal and invades local structures, producing abnormal bleeding, a palpable/visible mass, and (in botryoid ERMS) protruding polypoid tissue. Advanced disease can spread locoregionally and, for leiomyosarcoma, hematogenously.

mesenchymal stem cell CL:0000134

cell population proliferation GO:0008283 ↑ INCREASED

Downstream

Cervical Mass The expanding malignant mesenchymal tumor is the cervical mass itself.

Abnormal Vaginal Bleeding Local tumor growth and surface ulceration of the cervical mass cause abnormal vaginal bleeding.

Show evidence (1 reference)

PMID:37215607 SUPPORT Human Clinical

"a prepubescent 9-year-old girl who was presented to our department for metrorrhagias due to a vaginal cervical mass"

Supports local tumor growth presenting as a cervical mass causing abnormal bleeding (metrorrhagia).

DICER1 Syndrome Predisposition

In the DICER1-associated embryonal rhabdomyosarcoma subtype, a germline DICER1 loss-of-function variant produces a hereditary tumor-predisposition syndrome (DICER1 syndrome) whose pleiotropic spectrum includes thyroid disease (multinodular goiter, thyroid neoplasia) in patients and relatives.

skeletal muscle myoblast CL:0000515

miRNA processing GO:0035196 ↓ DECREASED

Downstream

Thyroid Disease (DICER1 Syndrome) Germline DICER1 syndrome predisposes to thyroid disease as part of its pleiotropic tumor spectrum.

Show evidence (1 reference)

PMID:33135284 SUPPORT Human Clinical

"pathogenic germline variants in this gene cause a hereditary cancer predisposition syndrome (DICER1 syndrome)"

Supports germline DICER1 variants as the basis of the DICER1 tumor-predisposition syndrome underlying the familial spectrum.

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Histopathology

3

Embryonal Rhabdomyosarcoma

Small round/spindle rhabdomyoblastic tumor; the botryoid variant shows a polypoid grape-like growth with a subepithelial cambium layer.

Show evidence (1 reference)

PMID:31900434 SUPPORT Human Clinical

"ERMS arising in the uterine cervix may harbor mutations in the gene encoding the microRNA biogenesis enzyme, DICER1"

Confirms embryonal rhabdomyosarcoma as a histologic entity arising in the uterine cervix.

Cervical Leiomyosarcoma

Malignant smooth-muscle tumor with fascicular spindle-cell architecture, cytologic atypia, mitotic activity, and tumor cell necrosis.

Show evidence (1 reference)

PMID:36114030 SUPPORT Human Clinical

"Leiomyosarcoma is the most common uterine sarcoma followed by endometrial stromal sarcomas."

Supports leiomyosarcoma as a recognized uterine (including cervical) smooth-muscle sarcoma entity.

Mullerian Adenosarcoma

Biphasic tumor with benign glands and a malignant low-grade stromal component, leaflike phyllodes-like architecture, and periglandular cuffing.

Show evidence (1 reference)

PMID:26927725 SUPPORT Human Clinical

"Periglandular cuffing of the stromal cells around the compressed or cystically dilated glands is characteristic."

Directly supports the characteristic periglandular stromal cuffing of Mullerian adenosarcoma.

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Pathograph

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Phenotypes

3

Endocrine 1

Thyroid Disease (DICER1 Syndrome) Goiter HP:0000853

Show evidence (1 reference)

PMID:37215607 PARTIAL Human Clinical

"The family history revealed thyroid diseases in the father, aunt and paternal grandmother before the age of 20."

Supports thyroid disease as part of the familial DICER1-syndrome spectrum associated with cervical ERMS; goiter is the best available HP term for the broader thyroid-disease phenotype.

Other 2

Abnormal Vaginal Bleeding VERY_FREQUENT Abnormal vaginal bleeding HP:0034263

Show evidence (1 reference)

PMID:37215607 SUPPORT Human Clinical

"a prepubescent 9-year-old girl who was presented to our department for metrorrhagias due to a vaginal cervical mass"

Documents abnormal vaginal bleeding (metrorrhagia) as the presenting symptom of cervical embryonal rhabdomyosarcoma.

Cervical Mass VERY_FREQUENT Cervix cancer HP:0030079

Show evidence (1 reference)

PMID:37215607 SUPPORT Human Clinical

"a vaginal cervical mass, initially classified as a müllerian endocervical polyp"

Documents a malignant cervical neoplasm (mass) as the presenting lesion of cervical embryonal rhabdomyosarcoma.

🧬

Genetic Associations

3

DICER1 (Somatic and germline loss-of-function mutation)

Gene: DICER1 hgnc:17098

Show evidence (1 reference)

PMID:33135284 SUPPORT Human Clinical

"Given that germline pathogenic DICER1 variants are frequent in uterine (corpus and cervix) ERMS and pathogenic germline variants in this gene cause a hereditary cancer predisposition syndrome (DICER1 syndrome), patients diagnosed with these neoplasms should be referred to medical genetic services."

Directly supports frequent germline DICER1 variants in cervical ERMS and the indication for genetic referral.

DICER1 in Adenosarcoma (Somatic mutation in a subset)

Gene: DICER1 hgnc:17098

Show evidence (1 reference)

PMID:33135284 SUPPORT Human Clinical

"almost all gynecologic ERMS reported (outside of the vagina) harbor DICER1 alterations, while approximately 20% of adenosarcomas also do so."

Supports DICER1 alterations in a subset (~20%) of adenosarcomas, fewer than in gynecologic ERMS.

TP53 and ATRX (Leiomyosarcoma) (Somatic mutation)

Gene: TP53 hgnc:11998

Show evidence (1 reference)

PMID:26692951 SUPPORT Human Clinical

"We identified TP53 mutations in 19 of the 54 tumors (35%) and ATRX mutations in 9 of the 54 tumors (17%)."

Provides direct evidence that TP53 and ATRX mutations are recurrent events in leiomyosarcoma.

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Medical Actions

4

Surgical Resection

Action: Definitive Surgical Resection NCIT:C154430

Surgery is the mainstay of treatment for cervical sarcoma, ranging from fertility-sparing local excision/trachelectomy (selected ERMS) to radical hysterectomy, with the goal of complete tumor removal.

Multi-Agent Chemotherapy

Action: Combination Chemotherapy NCIT:C191

Agent: vincristine CHEBI:28445 actinomycin D CHEBI:27666 cyclophosphamide CHEBI:4027

For embryonal rhabdomyosarcoma, systemic chemotherapy with the VAC backbone (vincristine, actinomycin D, cyclophosphamide) is standard, integrated with local control. Chemotherapy regimens differ by subtype (sarcoma-type rather than carcinoma-type protocols).

Radiation Therapy

Action: Radiation Therapy NCIT:C15313

Radiation therapy is used for local control in selected cases, particularly for residual disease or unfavorable features after surgery.

Genetic Counseling

Action: Genetic Counseling NCIT:C15240

Patients with cervical/uterine embryonal rhabdomyosarcoma should be referred for genetic counseling and DICER1 testing given the high frequency of germline DICER1 variants (DICER1 syndrome).

Show evidence (1 reference)

PMID:33135284 SUPPORT Human Clinical

"patients diagnosed with these neoplasms should be referred to medical genetic services."

Directly supports referral to genetic services (counseling/testing) for patients with cervical/uterine ERMS due to frequent germline DICER1 variants.

{ }

Source YAML

click to show

name: Sarcoma Of Cervix Uteri
creation_date: '2026-06-17T00:00:00Z'
description: >-
  Sarcoma of the cervix uteri is a rare group of malignant mesenchymal tumors of
  the uterine cervix, accounting for well under 1% of all cervical malignancies.
  In contrast to the far more common cervical carcinomas (squamous cell carcinoma
  and adenocarcinoma), which arise from epithelium and are typically HPV-driven,
  cervical sarcomas arise from mesenchymal (stromal, smooth muscle, or skeletal
  muscle) elements. The major histologic subtypes are embryonal rhabdomyosarcoma
  (sarcoma botryoides), the most common cervical sarcoma in children and young
  women and characteristically associated with DICER1 alterations; cervical
  leiomyosarcoma, a genomically complex smooth-muscle malignancy driven by loss
  of major tumor suppressor pathways; and Mullerian adenosarcoma, a biphasic
  tumor with benign epithelium and a malignant low-grade stromal component whose
  prognosis is dominated by sarcomatous overgrowth. Because these tumors are
  biologically distinct from cervical carcinomas, they require sarcoma-specific
  pathologic classification and management. This entry is scoped to the three
  classical, most frequent histologic subtypes; rarer molecularly-defined
  cervical mesenchymal entities (NTRK-rearranged spindle cell sarcoma,
  COL1A1::PDGFB fusion sarcoma, extraosseous Ewing sarcoma) are recognized but
  not modeled in detail here.
categories:
- Gynecologic Cancer
- Sarcoma
parents:
- cervical cancer
- sarcoma
disease_term:
  preferred_term: sarcoma of cervix uteri
  term:
    id: MONDO:0016280
    label: sarcoma of cervix uteri
has_subtypes:
- name: Cervical ERMS
  display_name: Cervical Embryonal Rhabdomyosarcoma (Sarcoma Botryoides)
  description: >-
    Embryonal rhabdomyosarcoma of the uterine cervix, the most common cervical
    sarcoma in children and young women. Often presents as a polypoid
    grape-like (botryoid) mass. Characteristically harbors somatic and frequently
    germline DICER1 mutations, the latter indicating DICER1 syndrome.
  subtype_term:
    preferred_term: Embryonal Rhabdomyosarcoma
    term:
      id: NCIT:C8971
      label: Embryonal Rhabdomyosarcoma
- name: Cervical Leiomyosarcoma
  display_name: Leiomyosarcoma of the Cervix
  description: >-
    A malignant smooth-muscle tumor of the cervix. Genomically complex with
    recurrent loss of TP53, RB1, PTEN, and ATRX pathways rather than a single
    recurrent fusion. Aggressive with a tendency for hematogenous spread.
  subtype_term:
    preferred_term: Cervical Leiomyosarcoma
    term:
      id: NCIT:C128047
      label: Cervical Leiomyosarcoma
- name: Cervical Adenosarcoma
  display_name: Mullerian Adenosarcoma of the Cervix
  description: >-
    A biphasic Mullerian tumor composed of a benign epithelial component and a
    malignant low-grade stromal (sarcomatous) component, with a characteristic
    phyllodes-like leaflike architecture and periglandular stromal cuffing.
    Prognosis is dominated by sarcomatous overgrowth and myometrial/deep stromal
    invasion.
  subtype_term:
    preferred_term: Adenosarcoma
    term:
      id: NCIT:C9474
      label: Adenosarcoma
pathophysiology:
- name: Mesenchymal Malignant Transformation
  description: >-
    Cervical sarcomas arise from malignant transformation of cervical mesenchymal
    elements (smooth muscle, primitive skeletal muscle precursors, or
    endometrial/cervical stroma) rather than from epithelium. This mesenchymal
    origin distinguishes them from the epithelial cervical carcinomas and
    underlies their divergent biology and treatment.
  cell_types:
  - preferred_term: mesenchymal stem cell
    term:
      id: CL:0000134
      label: mesenchymal stem cell
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  evidence:
  - reference: PMID:33135284
    reference_title: "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Gynecologic sarcomas are uncommon neoplasms, the majority occurring in the
      uterus.
    explanation: >-
      Supports the framing of cervical sarcomas as uncommon mesenchymal
      neoplasms within the broader group of gynecologic (uterine) sarcomas.
  downstream:
  - target: DICER1 Loss of Function and miRNA Dysregulation
    description: >-
      In the embryonal rhabdomyosarcoma lineage, mesenchymal/myogenic precursor
      transformation is driven by DICER1 microRNA-processing defects.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
  - target: Tumor Suppressor Loss and Genomic Complexity
    description: >-
      In the cervical leiomyosarcoma lineage, smooth-muscle transformation is
      driven by loss of major tumor suppressor pathways.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
  - target: Sarcomatous Overgrowth in Adenosarcoma
    description: >-
      In the adenosarcoma lineage, malignant transformation is confined to the
      stromal component, whose expansion (sarcomatous overgrowth) governs
      aggressiveness.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
- name: DICER1 Loss of Function and miRNA Dysregulation
  description: >-
    DICER1 is a highly conserved ribonuclease essential for microRNA biogenesis.
    Somatic (and frequently germline) DICER1 mutations are the characteristic
    molecular lesion of cervical/uterine embryonal rhabdomyosarcoma. Loss of
    DICER1 function disrupts microRNA processing and the resulting post-
    transcriptional gene-silencing programs, derepressing growth-promoting
    targets and impairing myogenic differentiation of the rhabdomyoblastic
    tumor cells. Germline DICER1 variants define the DICER1 hereditary cancer
    predisposition syndrome.
  cell_types:
  - preferred_term: skeletal muscle myoblast
    term:
      id: CL:0000515
      label: skeletal muscle myoblast
  biological_processes:
  - preferred_term: miRNA processing
    modifier: DECREASED
    term:
      id: GO:0035196
      label: miRNA processing
  - preferred_term: miRNA-mediated post-transcriptional gene silencing
    modifier: ABNORMAL
    term:
      id: GO:0035195
      label: miRNA-mediated post-transcriptional gene silencing
  evidence:
  - reference: PMID:33135284
    reference_title: "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      DICER1 is a highly conserved ribonuclease crucial in the biogenesis of
      microRNAs and mutations in DICER1 (either somatic or germline) have been
      detected in a wide range of sarcomas including genitourinary embryonal
      rhabdomyosarcomas (ERMS) and adenosarcomas.
    explanation: >-
      Directly supports DICER1 (a microRNA-biogenesis ribonuclease) loss-of-
      function mutation as the characteristic molecular lesion of gynecologic
      embryonal rhabdomyosarcoma.
  - reference: PMID:31900434
    reference_title: "Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      We and others have reported that ERMS arising in the uterine cervix may
      harbor mutations in the gene encoding the microRNA biogenesis enzyme,
      DICER1
    explanation: >-
      Confirms that cervix-arising embryonal rhabdomyosarcoma harbors mutations
      in the microRNA-biogenesis enzyme DICER1.
  downstream:
  - target: Impaired Myogenic Differentiation
    description: >-
      miRNA dysregulation derepresses proliferative programs and blocks terminal
      rhabdomyoblastic (skeletal muscle) differentiation.
    causal_link_type: DIRECT
  - target: DICER1 Syndrome Predisposition
    description: >-
      When the DICER1 loss-of-function lesion is germline, it manifests as the
      heritable DICER1 tumor-predisposition syndrome.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
- name: Impaired Myogenic Differentiation
  description: >-
    In cervical embryonal rhabdomyosarcoma the tumor cells are arrested as
    primitive rhabdomyoblasts that fail to complete terminal skeletal-muscle
    differentiation, while continuing to proliferate. Myogenin expression is
    often focal/variable, which can complicate diagnosis. This differentiation
    block, together with sustained proliferation, produces the small round/spindled
    rhabdomyoblastic tumor.
  cell_types:
  - preferred_term: skeletal muscle myoblast
    term:
      id: CL:0000515
      label: skeletal muscle myoblast
  biological_processes:
  - preferred_term: skeletal muscle cell differentiation
    modifier: DECREASED
    term:
      id: GO:0035914
      label: skeletal muscle cell differentiation
  - preferred_term: regulation of cell population proliferation
    modifier: ABNORMAL
    term:
      id: GO:0042127
      label: regulation of cell population proliferation
  evidence:
  - reference: PMID:37215607
    reference_title: "DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      a vaginal cervical mass, initially classified as a müllerian endocervical
      polyp on negative myogenin immunostaining
    explanation: >-
      Illustrates that cervical ERMS rhabdomyoblasts may show negative/focal
      myogenin immunostaining, consistent with an immature, incompletely
      differentiated myogenic phenotype that can lead to initial misdiagnosis.
  downstream:
  - target: Local Tumor Growth and Invasion
    description: >-
      Proliferating, poorly differentiated rhabdomyoblasts form an enlarging
      cervical mass that invades locally.
    causal_link_type: DIRECT
- name: Tumor Suppressor Loss and Genomic Complexity
  description: >-
    Cervical leiomyosarcoma, like leiomyosarcoma at other sites, is a genomically
    complex sarcoma defined by recurrent loss of major tumor-suppressor pathways
    rather than a single recurrent fusion. Frequent alterations involve TP53,
    RB1, PTEN, and ATRX, driving loss of cell-cycle and genome-stability control
    in the malignant smooth-muscle cells.
  cell_types:
  - preferred_term: smooth muscle cell
    term:
      id: CL:0000192
      label: smooth muscle cell
  biological_processes:
  - preferred_term: smooth muscle cell differentiation
    modifier: ABNORMAL
    term:
      id: GO:0051145
      label: smooth muscle cell differentiation
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  evidence:
  - reference: PMID:26541895
    reference_title: "Targeted exome sequencing profiles genetic alterations in leiomyosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Losses of chromosomal regions involving key tumor suppressor genes PTEN
      (10q), RB1 (13q), CDH1 (16q), and TP53 (17p) were the most frequent
      genetic events.
    explanation: >-
      Supports recurrent tumor-suppressor loss (PTEN, RB1, TP53) as the core
      genomic feature of leiomyosarcoma, including the cervical site.
  - reference: PMID:26692951
    reference_title: "Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      In conclusion, we identified loss of function of the p53 and ATRX pathways
      being the main mechanisms for leiomyosarcomas.
    explanation: >-
      Directly supports disruption of the TP53 and ATRX pathways as central
      mechanisms in leiomyosarcoma.
  downstream:
  - target: Local Tumor Growth and Invasion
    description: >-
      Genomically unstable, proliferating malignant smooth-muscle cells form an
      invasive cervical mass with metastatic potential.
    causal_link_type: DIRECT
- name: Sarcomatous Overgrowth in Adenosarcoma
  description: >-
    Mullerian adenosarcoma is a biphasic tumor with a benign epithelial component
    and a malignant low-grade stromal (sarcomatous) component, exhibiting a
    leaflike phyllodes-like architecture with periglandular cuffing. A minority
    of cases (~20%) harbor DICER1 alterations, overlapping with ERMS. Prognosis
    is governed by sarcomatous overgrowth - expansion of the high-grade stromal
    component beyond the biphasic pattern - and by depth of myometrial/stromal
    invasion.
  cell_types:
  - preferred_term: fibroblast
    term:
      id: CL:0000057
      label: fibroblast
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  evidence:
  - reference: PMID:26927725
    reference_title: "Uterine Adenosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Müllerian adenosarcoma is an uncommon biphasic tumor composed of malignant
      stromal and benign epithelial components.
    explanation: >-
      Directly supports the biphasic nature of adenosarcoma with a malignant
      stromal and benign epithelial component.
  - reference: PMID:26927725
    reference_title: "Uterine Adenosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      it is important to assess for the presence of sarcomatous overgrowth and
      myometrial invasion, which are the prognostic factors.
    explanation: >-
      Supports sarcomatous overgrowth and invasion as the key prognostic drivers
      in adenosarcoma.
  downstream:
  - target: Local Tumor Growth and Invasion
    description: >-
      Sarcomatous overgrowth and deep stromal/myometrial invasion convert a
      low-grade lesion into a locally aggressive, recurrence-prone tumor.
    causal_link_type: DIRECT
- name: Local Tumor Growth and Invasion
  description: >-
    Regardless of subtype, the proliferating malignant mesenchymal cells form an
    enlarging cervical mass that disrupts the cervical canal and invades local
    structures, producing abnormal bleeding, a palpable/visible mass, and (in
    botryoid ERMS) protruding polypoid tissue. Advanced disease can spread
    locoregionally and, for leiomyosarcoma, hematogenously.
  cell_types:
  - preferred_term: mesenchymal stem cell
    term:
      id: CL:0000134
      label: mesenchymal stem cell
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  evidence:
  - reference: PMID:37215607
    reference_title: "DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      a prepubescent 9-year-old girl who was presented to our department for
      metrorrhagias due to a vaginal cervical mass
    explanation: >-
      Supports local tumor growth presenting as a cervical mass causing abnormal
      bleeding (metrorrhagia).
  downstream:
  - target: Cervical Mass
    description: >-
      The expanding malignant mesenchymal tumor is the cervical mass itself.
    causal_link_type: DIRECT
  - target: Abnormal Vaginal Bleeding
    description: >-
      Local tumor growth and surface ulceration of the cervical mass cause
      abnormal vaginal bleeding.
    causal_link_type: DIRECT
- name: DICER1 Syndrome Predisposition
  description: >-
    In the DICER1-associated embryonal rhabdomyosarcoma subtype, a germline
    DICER1 loss-of-function variant produces a hereditary tumor-predisposition
    syndrome (DICER1 syndrome) whose pleiotropic spectrum includes thyroid
    disease (multinodular goiter, thyroid neoplasia) in patients and relatives.
  cell_types:
  - preferred_term: skeletal muscle myoblast
    term:
      id: CL:0000515
      label: skeletal muscle myoblast
  biological_processes:
  - preferred_term: miRNA processing
    modifier: DECREASED
    term:
      id: GO:0035196
      label: miRNA processing
  evidence:
  - reference: PMID:33135284
    reference_title: "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      pathogenic germline variants in this gene cause a hereditary cancer
      predisposition syndrome (DICER1 syndrome)
    explanation: >-
      Supports germline DICER1 variants as the basis of the DICER1
      tumor-predisposition syndrome underlying the familial spectrum.
  downstream:
  - target: Thyroid Disease (DICER1 Syndrome)
    description: >-
      Germline DICER1 syndrome predisposes to thyroid disease as part of its
      pleiotropic tumor spectrum.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
phenotypes:
- category: Genitourinary
  name: Abnormal Vaginal Bleeding
  frequency: VERY_FREQUENT
  diagnostic: true
  description: >-
    Abnormal vaginal bleeding (including postmenopausal, intermenstrual, or, in
    children, prepubertal bleeding/metrorrhagia) is the most common presenting
    symptom of cervical sarcoma.
  phenotype_term:
    preferred_term: Abnormal vaginal bleeding
    term:
      id: HP:0034263
      label: Abnormal vaginal bleeding
  evidence:
  - reference: PMID:37215607
    reference_title: "DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      a prepubescent 9-year-old girl who was presented to our department for
      metrorrhagias due to a vaginal cervical mass
    explanation: >-
      Documents abnormal vaginal bleeding (metrorrhagia) as the presenting
      symptom of cervical embryonal rhabdomyosarcoma.
- category: Neoplasm
  name: Cervical Mass
  frequency: VERY_FREQUENT
  diagnostic: true
  description: >-
    A cervical/vaginal mass is the characteristic finding; in botryoid embryonal
    rhabdomyosarcoma it presents as a grape-like polypoid mass protruding from
    the cervix. The mass is a malignant cervical neoplasm.
  phenotype_term:
    preferred_term: Cervix cancer
    term:
      id: HP:0030079
      label: Cervix cancer
  evidence:
  - reference: PMID:37215607
    reference_title: "DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      a vaginal cervical mass, initially classified as a müllerian endocervical
      polyp
    explanation: >-
      Documents a malignant cervical neoplasm (mass) as the presenting lesion of
      cervical embryonal rhabdomyosarcoma.
- category: Endocrine
  name: Thyroid Disease (DICER1 Syndrome)
  description: >-
    In DICER1-syndrome-associated cervical ERMS, affected individuals and
    relatives may have thyroid disease (multinodular goiter, thyroid neoplasia)
    as part of the DICER1 tumor-predisposition spectrum.
  phenotype_term:
    preferred_term: Goiter
    term:
      id: HP:0000853
      label: Goiter
  evidence:
  - reference: PMID:37215607
    reference_title: "DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The family history revealed thyroid diseases in the father, aunt and
      paternal grandmother before the age of 20.
    explanation: >-
      Supports thyroid disease as part of the familial DICER1-syndrome spectrum
      associated with cervical ERMS; goiter is the best available HP term for the
      broader thyroid-disease phenotype.
histopathology:
- name: Embryonal Rhabdomyosarcoma
  finding_term:
    preferred_term: Embryonal Rhabdomyosarcoma
    term:
      id: NCIT:C8971
      label: Embryonal Rhabdomyosarcoma
  description: >-
    Small round/spindle rhabdomyoblastic tumor; the botryoid variant shows a
    polypoid grape-like growth with a subepithelial cambium layer.
  evidence:
  - reference: PMID:31900434
    reference_title: "Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      ERMS arising in the uterine cervix may harbor mutations in the gene
      encoding the microRNA biogenesis enzyme, DICER1
    explanation: >-
      Confirms embryonal rhabdomyosarcoma as a histologic entity arising in the
      uterine cervix.
- name: Cervical Leiomyosarcoma
  finding_term:
    preferred_term: Cervical Leiomyosarcoma
    term:
      id: NCIT:C128047
      label: Cervical Leiomyosarcoma
  description: >-
    Malignant smooth-muscle tumor with fascicular spindle-cell architecture,
    cytologic atypia, mitotic activity, and tumor cell necrosis.
  evidence:
  - reference: PMID:36114030
    reference_title: "Uterine sarcomas and rare uterine mesenchymal tumors with malignant potential. Diagnostic guidelines of the French Sarcoma Group and the Rare Gynecological Tumors Group."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Leiomyosarcoma is the most common uterine sarcoma followed by endometrial
      stromal sarcomas.
    explanation: >-
      Supports leiomyosarcoma as a recognized uterine (including cervical)
      smooth-muscle sarcoma entity.
- name: Mullerian Adenosarcoma
  finding_term:
    preferred_term: Adenosarcoma
    term:
      id: NCIT:C9474
      label: Adenosarcoma
  description: >-
    Biphasic tumor with benign glands and a malignant low-grade stromal
    component, leaflike phyllodes-like architecture, and periglandular cuffing.
  evidence:
  - reference: PMID:26927725
    reference_title: "Uterine Adenosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Periglandular cuffing of the stromal cells around the compressed or
      cystically dilated glands is characteristic.
    explanation: >-
      Directly supports the characteristic periglandular stromal cuffing of
      Mullerian adenosarcoma.
genetic:
- name: DICER1
  gene_term:
    preferred_term: DICER1
    term:
      id: hgnc:17098
      label: DICER1
  association: Somatic and germline loss-of-function mutation
  notes: >-
    DICER1 mutations (somatic, and frequently germline) are characteristic of
    cervical/uterine embryonal rhabdomyosarcoma; germline variants indicate
    DICER1 syndrome and warrant referral to medical genetic services.
  evidence:
  - reference: PMID:33135284
    reference_title: "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Given that germline pathogenic DICER1 variants are frequent in uterine
      (corpus and cervix) ERMS and pathogenic germline variants in this gene
      cause a hereditary cancer predisposition syndrome (DICER1 syndrome),
      patients diagnosed with these neoplasms should be referred to medical
      genetic services.
    explanation: >-
      Directly supports frequent germline DICER1 variants in cervical ERMS and
      the indication for genetic referral.
- name: DICER1 in Adenosarcoma
  gene_term:
    preferred_term: DICER1
    term:
      id: hgnc:17098
      label: DICER1
  association: Somatic mutation in a subset
  notes: >-
    Approximately 20% of Mullerian adenosarcomas also harbor DICER1 alterations,
    overlapping morphologically with ERMS.
  evidence:
  - reference: PMID:33135284
    reference_title: "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      almost all gynecologic ERMS reported (outside of the vagina) harbor DICER1
      alterations, while approximately 20% of adenosarcomas also do so.
    explanation: >-
      Supports DICER1 alterations in a subset (~20%) of adenosarcomas, fewer than
      in gynecologic ERMS.
- name: TP53 and ATRX (Leiomyosarcoma)
  gene_term:
    preferred_term: TP53
    term:
      id: hgnc:11998
      label: TP53
  association: Somatic mutation
  notes: >-
    Loss of function of the TP53 and ATRX pathways is a main driver of
    leiomyosarcoma, including the cervical site.
  evidence:
  - reference: PMID:26692951
    reference_title: "Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      We identified TP53 mutations in 19 of the 54 tumors (35%) and ATRX
      mutations in 9 of the 54 tumors (17%).
    explanation: >-
      Provides direct evidence that TP53 and ATRX mutations are recurrent events
      in leiomyosarcoma.
treatments:
- name: Surgical Resection
  description: >-
    Surgery is the mainstay of treatment for cervical sarcoma, ranging from
    fertility-sparing local excision/trachelectomy (selected ERMS) to radical
    hysterectomy, with the goal of complete tumor removal.
  treatment_term:
    preferred_term: Definitive Surgical Resection
    term:
      id: NCIT:C154430
      label: Definitive Surgical Resection
  notes: >-
    Surgery as the mainstay of localized cervical-sarcoma management is a
    well-established clinical standard; no quotable treatment-specific snippet
    was available in the cited diagnostic references, so the claim is recorded
    here rather than attached to a mismatched evidence item.
- name: Multi-Agent Chemotherapy
  description: >-
    For embryonal rhabdomyosarcoma, systemic chemotherapy with the VAC backbone
    (vincristine, actinomycin D, cyclophosphamide) is standard, integrated with
    local control. Chemotherapy regimens differ by subtype (sarcoma-type rather
    than carcinoma-type protocols).
  treatment_term:
    preferred_term: Combination Chemotherapy
    term:
      id: NCIT:C191
      label: Combination Chemotherapy
    therapeutic_agent:
    - preferred_term: vincristine
      term:
        id: CHEBI:28445
        label: vincristine
    - preferred_term: actinomycin D
      term:
        id: CHEBI:27666
        label: actinomycin D
    - preferred_term: cyclophosphamide
      term:
        id: CHEBI:4027
        label: cyclophosphamide
  notes: >-
    The VAC backbone (vincristine, actinomycin D, cyclophosphamide) as standard
    systemic therapy for the embryonal rhabdomyosarcoma subtype is an
    established clinical standard; no quotable VAC-specific snippet was
    available in the cited references, so the claim is recorded here rather than
    attached to a mismatched evidence item.
- name: Radiation Therapy
  description: >-
    Radiation therapy is used for local control in selected cases, particularly
    for residual disease or unfavorable features after surgery.
  treatment_term:
    preferred_term: Radiation Therapy
    term:
      id: NCIT:C15313
      label: Radiation Therapy
- name: Genetic Counseling
  description: >-
    Patients with cervical/uterine embryonal rhabdomyosarcoma should be referred
    for genetic counseling and DICER1 testing given the high frequency of
    germline DICER1 variants (DICER1 syndrome).
  treatment_term:
    preferred_term: Genetic Counseling
    term:
      id: NCIT:C15240
      label: Genetic Counseling
  evidence:
  - reference: PMID:33135284
    reference_title: "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      patients diagnosed with these neoplasms should be referred to medical
      genetic services.
    explanation: >-
      Directly supports referral to genetic services (counseling/testing) for
      patients with cervical/uterine ERMS due to frequent germline DICER1
      variants.
classifications:
  icdo_morphology:
    classification_value: Sarcoma
  harrisons_chapter:
  - classification_value: ONCOLOGY_HEMATOLOGY
references:
- reference: PMID:33135284
  title: >-
    DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the
    gynecologic tract: Pathology, molecular genetics, and indications for
    molecular testing.

📚

References & Deep Research

References

1

PMID:33135284

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.

No top-level findings curated for this source.

Deep Research

1

Falcon ▸

1. Disease Information

Edison Scientific Literature 28 citations 2026-06-17T10:37:17.850690

1. Disease Information

1.1 Overview / definition (current understanding)

“Sarcoma of cervix uteri” is best treated as an umbrella disease concept covering multiple histologic and increasingly molecularly defined malignant mesenchymal tumors that arise primarily in the uterine cervix (rather than spreading from other sites). Contemporary reports emphasize that cervical sarcomas are very rare and their management often relies on small series/case reports and extrapolation from uterine/soft-tissue sarcoma practice (altmann2024fertilitysparingstrategyin pages 1-3, ghirardi2019roleofsurgery pages 9-10).

1.2 Common synonyms / alternative names

Cervical sarcoma
Primary sarcoma of the cervix uteri (altmann2024fertilitysparingstrategyin pages 1-3)
Subtype-specific names are frequently used in practice (e.g., cervical embryonal rhabdomyosarcoma, cervical leiomyosarcoma, NTRK-rearranged spindle cell sarcoma, extraosseous Ewing sarcoma of cervix, COL1A1–PDGFB fusion uterine/cervical sarcoma) (yu2024clinicopathologiccharacteristicstreatment pages 1-2, szalai2024ntrkrearrangedspindlecell pages 1-3, xiao2024primaryewing’ssarcoma pages 1-2, lu2023casereporta pages 6-7).

1.3 Data provenance

Most cervix-sarcoma knowledge is derived from aggregated disease-level resources (guidelines for uterine sarcoma) plus individual case reports/series for cervix-specific entities (raycoquard2024esgoeuracangcigguidelinesfor pages 2-3, yu2024clinicopathologiccharacteristicstreatment pages 1-2, xiao2024primaryewing’ssarcoma pages 1-2).

2. Etiology

2.1 Disease causal factors

Cervical sarcomas are heterogeneous and include: - Fusion-driven sarcomas (e.g., NTRK fusions, COL1A1–PDGFB) (szalai2024ntrkrearrangedspindlecell pages 1-3, lu2023casereporta pages 6-7) - Oncogenic translocation-driven small round cell tumors (e.g., EWSR1–FLI1 in Ewing sarcoma) (xiao2024primaryewing’ssarcoma pages 1-2) - Predisposition-associated tumors (e.g., DICER1-associated cervical sarcoma, and literature linking DICER1 with cervical embryonal rhabdomyosarcoma) (altmann2024fertilitysparingstrategyin pages 1-3, yu2024clinicopathologiccharacteristicstreatment pages 1-2)

2.2 Risk factors

Evidence is limited for cervix-sarcoma-specific environmental risks. However, mechanistic “risk factors” in the sense of tumor-initiating genomic events are well described: - NTRK rearrangement defining an emerging subset of uterine/cervical sarcomas (szalai2024ntrkrearrangedspindlecell pages 1-3) - COL1A1–PDGFB fusion activating PDGFB/PDGFR signaling (lu2023casereporta pages 1-2) - DICER1 mutation in a reported cervical sarcoma case and a proposed DICER1-sarcoma entity (altmann2024fertilitysparingstrategyin pages 1-3)

2.3 Protective factors / GxE

No cervix-sarcoma-specific protective factors or gene–environment interactions were identified in the retrieved corpus.

3. Phenotypes (clinical presentation)

3.1 Common presenting phenotypes (with suggested HPO terms)

Cervical sarcomas frequently present with bleeding and/or a cervical mass/polypoid lesion across subtypes: - Irregular vaginal bleeding (HPO: Abnormal uterine bleeding HP:0100602; Postcoital bleeding HP:0030828) is common in DICER1-associated cervical sarcoma and other subtypes (altmann2024fertilitysparingstrategyin pages 1-3, xiao2024primaryewing’ssarcoma pages 1-2). - Vaginal tissue prolapse / polypoid mass (HPO: Pelvic organ prolapse HP:0000139 as a proxy; Vaginal mass HP:0030448 as a proxy) is prominent in cervical rhabdomyosarcoma series (yu2024clinicopathologiccharacteristicstreatment pages 1-2). - Abdominal/pelvic pain (HPO: Abdominal pain HP:0002027) and urinary frequency (HPO: HP:0000018) were reported in cervical rhabdomyosarcoma series (yu2024clinicopathologiccharacteristicstreatment pages 1-2).

3.2 Age of onset / severity / progression

Cervical rhabdomyosarcoma clustered in adolescents/young women in a 12-patient institutional series (15–50 years; median 17) (yu2024clinicopathologiccharacteristicstreatment pages 1-2).
DICER1-associated cervical sarcoma was reported in an 18-year-old (altmann2024fertilitysparingstrategyin pages 1-3).
NTRK-rearranged cervix sarcomas often occur in premenopausal/perimenopausal women (example age 43 in a NUMA1::NTRK1 case) (szalai2024ntrkrearrangedspindlecell pages 1-3).

3.3 Quality of life impact

Direct QoL measures were not retrieved. Indirectly, heavy bleeding, prolapse/mass effect, radical surgery, and multi-agent chemotherapy imply substantial functional and reproductive impact (yu2024clinicopathologiccharacteristicstreatment pages 1-2, altmann2024fertilitysparingstrategyin pages 1-3).

4. Genetic / Molecular Information

4.1 Key actionable or defining alterations (recent 2023–2024 emphasis)

A) NTRK-rearranged spindle cell sarcoma/neoplasm of uterine cervix

Defined by NTRK gene rearrangements leading to constitutive Trk activation (szalai2024ntrkrearrangedspindlecell pages 1-3).
A 2024 cervix case reported a novel NUMA1::NTRK1 fusion detected by NGS; the fusion protein is “predicted to cause constant activation” of the NTRK1 kinase domain (szalai2024ntrkrearrangedspindlecell pages 1-3).
Diagnostic theme: strong/diffuse pan-TRK and CD34 positivity (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2).

B) COL1A1–PDGFB fusion uterine/cervical sarcoma

COL1A1–PDGFB fusion produces an oncogenic chimeric transcript activating PDGFB/PDGFR signaling (lu2023casereporta pages 1-2).
The report stresses that “early precise diagnosis may allow patients to benefit from the targeted therapy imatinib” (PDGFR inhibitor activity) (lu2023casereporta pages 1-2).
Table evidence on immunophenotype and compiled cases is available in the retrieved table images (lu2023casereporta media bf56b6c0, lu2023casereporta media 92e7e479).

C) Extraosseous Ewing sarcoma of cervix

Hallmark: EWSR1–FLI1 fusion; the review notes the EWS/FLI fusion occurs in ~85% of ESFT with ~15% other EWS–ETS fusions (xiao2024primaryewing’ssarcoma pages 1-2).

D) DICER1-associated cervical sarcoma

A 2024 fertility-sparing case report describes a DICER1 mutation-associated sarcoma of the cervix and notes literature “hints towards a distinct DICER-1 sarcoma entity” (altmann2024fertilitysparingstrategyin pages 1-3).

4.2 Variant types / somatic vs germline

NTRK rearrangements and EWSR1 rearrangements are reported as tumor (somatic) fusions identified by FISH/NGS/RNA sequencing (szalai2024ntrkrearrangedspindlecell pages 1-3, xiao2024primaryewing’ssarcoma pages 1-2).
DICER1 alterations may be germline or somatic depending on context; in the retrieved cervix-sarcoma case, a DICER1 mutation was reported but the excerpt does not establish germline vs somatic status (altmann2024fertilitysparingstrategyin pages 1-3).

4.3 Epigenetics / modifier genes

Not specifically reported for cervix sarcoma in the retrieved evidence.

5. Environmental Information

No cervix-sarcoma-specific environmental, lifestyle, or infectious causal agents were identified in the retrieved corpus.

6. Mechanism / Pathophysiology

Cervical sarcomas reflect distinct oncogenic mechanisms by subtype:

6.1 Fusion-kinase driven signaling (upstream driver)

NTRK fusions: NTRK rearrangement is the defining lesion, leading to Trk receptor overexpression/activation and potential sensitivity to selective TRK inhibitors (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2).
Suggested GO biological process terms: protein tyrosine kinase signaling pathway (GO:0007169); cell proliferation (GO:0008283).
Suggested CL cell types (contextual): mesenchymal cell (CL:0000134); fibroblast (CL:0000057) (approximate, given fibrosarcoma-like morphology) (szalai2024ntrkrearrangedspindlecell pages 1-3).
COL1A1–PDGFB: fusion activates PDGFB signaling; conceptually upstream driver is ligand-driven PDGFR pathway activation (lu2023casereporta pages 1-2).
Suggested GO terms: platelet-derived growth factor receptor signaling pathway (GO:0048008); positive regulation of cell migration (GO:0030335).

6.2 Transcriptional-program driven oncogenesis

EWSR1–FLI1 fusion acts as a driver in Ewing sarcoma; diagnosis depends on demonstrating EWSR1 disruption and the EWSR1–FLI1 fusion (xiao2024primaryewing’ssarcoma pages 1-2).

6.3 miRNA processing pathway disruption

DICER1-associated sarcoma: DICER1 mutation is consistent with disrupted miRNA biogenesis; the case report points to a potentially distinct DICER1-sarcoma entity (altmann2024fertilitysparingstrategyin pages 1-3).

7. Anatomical Structures Affected

7.1 Primary anatomic site

Uterine cervix (UBERON:0000002 uterus; UBERON:0000003 cervix uteri—verify exact UBERON ID for cervix uteri in implementation). Primary tumors may extend into vagina or uterine cavity depending on subtype and growth pattern (lu2023casereporta pages 1-2, yu2024clinicopathologiccharacteristicstreatment pages 1-2).

7.2 Tissue/cell level

Predominantly stromal/mesenchymal tissue of the cervix; subtype-dependent differentiation (smooth muscle in leiomyosarcoma; skeletal muscle differentiation in rhabdomyosarcoma; fibrosarcoma-like spindle cell tumors in NTRK-rearranged neoplasms) (ghirardi2019roleofsurgery pages 9-10, yu2024clinicopathologiccharacteristicstreatment pages 1-2, szalai2024ntrkrearrangedspindlecell pages 1-3).

8. Temporal Development

8.1 Onset and course

Often subacute presentation with bleeding/mass.
Course ranges from relatively favorable outcomes in some series (e.g., cervical RMS series) to aggressive recurrence in fusion-driven spindle cell sarcoma cases (yu2024clinicopathologiccharacteristicstreatment pages 1-2, szalai2024ntrkrearrangedspindlecell pages 1-3).

9. Inheritance and Population

9.1 Epidemiology (key statistics)

A 2024 cervical DICER1-associated sarcoma report states: “Primary sarcomas of the cervix are very rare” and estimates they account for ~1.3% of cervical tumors (altmann2024fertilitysparingstrategyin pages 1-3).
A 2024 institutional cervical rhabdomyosarcoma series states: “Only 0.5% of primary RMSs are located in the cervix” (yu2024clinicopathologiccharacteristicstreatment pages 1-2).
For uterine sarcomas overall, GEIS guidelines cite incidence 0.36–0.64 per 100,000 (perezfidalgo2023uterinesarcomasclinical pages 1-1) and a uterine sarcoma guideline cites ~1.5–3 per 100,000 (denschlag2022sarcomaofthe pages 3-4). These values are not cervix-specific but contextualize rarity.

9.2 Population demographics

Cervical RMS: ages 15–50, median 17 in one 12-case series (yu2024clinicopathologiccharacteristicstreatment pages 1-2).
NTRK-rearranged cervix sarcoma: example patient age 43 in a 2024 case report (szalai2024ntrkrearrangedspindlecell pages 1-3).

10. Diagnostics

10.1 Core diagnostic workflow (cross-cutting principles)

Guidelines for uterine sarcoma emphasize diagnostic uncertainty and recommend imaging plus careful pathology, often requiring resection specimen for definitive diagnosis: - Pelvic ultrasound and MRI are recommended as first-line imaging approaches in uterine sarcoma diagnostic pathways (perezfidalgo2023uterinesarcomasclinical pages 1-1, perezfidalgo2023uterinesarcomasclinical pages 1-3). - Biopsy may have low sensitivity, and diagnosis is often established after surgical specimen analysis (perezfidalgo2023uterinesarcomasclinical pages 1-1, perezfidalgo2023uterinesarcomasclinical pages 1-3).

10.2 Histopathology + immunohistochemistry + molecular confirmation

Modern cervical sarcoma diagnosis increasingly requires molecular confirmation: - COL1A1–PDGFB fusion cervix/uterine sarcoma report: “confirmatory FISH or gene sequencing is mandatory in cases that are hard to identify” (lu2023casereporta pages 6-7). The retrieved tables summarize IHC and molecular detection across cases (lu2023casereporta media bf56b6c0, lu2023casereporta media 92e7e479). - NTRK-rearranged cervix spindle cell sarcoma: strong pan-TRK IHC and NGS-defined fusion; authors highlight importance of accurate diagnosis given targeted options (szalai2024ntrkrearrangedspindlecell pages 1-3). - Ewing sarcoma cervix: IHC (CD99, NKX2.2, FLI1), FISH for EWSR1 disruption, and NGS for EWSR1–FLI1 are central (xiao2024primaryewing’ssarcoma pages 1-2).

10.3 Suggested biomarkers / markers (examples)

NTRK rearranged: pan-TRK positive, CD34 positive (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2).
Ewing: CD99, NKX2.2, FLI1 positive; EWSR1 rearrangement/fusion (xiao2024primaryewing’ssarcoma pages 1-2).
DICER1-associated sarcoma case: Ki-67 90% reported; IHC profile described (altmann2024fertilitysparingstrategyin pages 1-3).

10.4 Differential diagnosis

Cervical leiomyosarcoma review notes reliance on sarcoma criteria (size, infiltrative margins, mitoses, atypia) and emphasizes smooth muscle marker profiling for differential diagnosis (ghirardi2019roleofsurgery pages 9-10).

11. Outcome / Prognosis

11.1 Reported outcomes (recent series/cases)

Cervical rhabdomyosarcoma (12-case series): among 11 with follow-up, 10 were tumor-free (90.9%); median survival 91 months; fertility-sparing subgroup had 1/4 pregnancy (25%) (yu2024clinicopathologiccharacteristicstreatment pages 1-2).
Ewing sarcoma cervix (case): disease-free at 1 year after surgery + adjuvant chemotherapy (xiao2024primaryewing’ssarcoma pages 1-2).
NTRK-rearranged cervix spindle cell sarcoma (case): early recurrence with progression after adriamycin and radiotherapy reported in one case (szalai2024ntrkrearrangedspindlecell pages 1-3).

11.2 Prognostic factors (high-level)

Tumor subtype and grade are critical; uterine sarcoma guidelines emphasize histologic grade as influential on behavior and prognosis (perezfidalgo2023uterinesarcomasclinical pages 1-1).

12. Treatment

12.1 Current applications / real-world implementation

Because of rarity, treatment is largely multimodal and individualized, ideally in specialized centers.

Cross-cutting expert/guideline principles

ESGO/EURACAN/GCIG uterine sarcoma guidelines emphasize: - Centralization of care and multidisciplinary tumor boards - Use of molecular tests (FISH, DNA sequencing, RNA sequencing) with histology/IHC to refine classification and identify therapeutic targets - Encouragement of clinical trial enrollment and prospective registries (raycoquard2024esgoeuracangcigguidelinesfor pages 2-3).

Surgical management

Cervical leiomyosarcoma review: “complete surgical excision with negative margins is considered to be the primary treatment” and lymphadenectomy has limited role due to low lymphatic spread (ghirardi2019roleofsurgery pages 9-10).
Cervical RMS series: radical or conservative resection (fertility-sparing) plus chemotherapy; age and reproductive intent are central (yu2024clinicopathologiccharacteristicstreatment pages 1-2).

Chemotherapy / radiotherapy

Ewing sarcoma cervix case used hysterectomy-based surgery with multi-agent chemotherapy; radiotherapy is part of multimodal paradigms (xiao2024primaryewing’ssarcoma pages 1-2).
NTRK-rearranged cervix sarcoma case progressed after adriamycin and radiotherapy, highlighting the need for targeted options when actionable fusions are present (szalai2024ntrkrearrangedspindlecell pages 1-3).

Targeted therapy

TRK inhibitors (precision oncology): NTRK-rearranged uterine/cervical sarcomas are emphasized as therapeutically important because NTRK fusion “is indicative of treatment response with a selective small-molecule inhibitor of the Trk kinases” (szalai2024ntrkrearrangedspindlecell pages 1-3).
Imatinib (PDGFR pathway): COL1A1–PDGFB fusion uterine sarcoma report notes imatinib use with a radiographic response (22.4 cm to 6.5 cm) before progression at 14 months in an imatinib-treated case from the literature (lu2023casereporta pages 6-7).

12.2 MAXO term suggestions (examples)

Surgical resection / hysterectomy: MAXO:0000610 (surgical procedure—placeholder; verify exact MAXO mapping)
Chemotherapy: MAXO:0000058
Radiotherapy: MAXO:0000127
Targeted therapy (TRK inhibitor / imatinib): MAXO:0000747 (pharmacotherapy/targeted therapy—verify)

13. Prevention

No cervix-sarcoma-specific primary prevention strategies were identified. Secondary prevention is not established due to rarity; early evaluation of symptomatic bleeding/masses and avoidance of morcellation in suspected sarcoma contexts are relevant general principles (perezfidalgo2023uterinesarcomasclinical pages 1-3, lu2023casereporta pages 6-7).

14. Other Species / Natural Disease

No evidence retrieved.

15. Model Organisms

No disease-specific animal models were retrieved in the current corpus.

Summary Table (cross-subtype comparison)

The table below summarizes key subtypes, molecular features, diagnostics, and outcomes captured in the retrieved evidence.

Entity / subtype	Typical presentation	Key molecular alteration(s)	Key diagnostic tests / IHC	Typical management approaches	Key quantitative / epidemiologic / prognostic data
Cervical rhabdomyosarcoma (mostly embryonal; rare pleomorphic)	Often adolescents/young women; vaginal bleeding, vaginal tissue prolapse, abdominal pain/urinary frequency; can mimic a cervical polyp (yu2024clinicopathologiccharacteristicstreatment pages 1-2)	DICER1 association reported in cervical ERMS; pathogenic DICER1 variation noted in literature/case reports (altmann2024fertilitysparingstrategyin pages 1-3)	MRI/CT/B-ultrasound used but nonspecific; RMS-marker IHC supportive of diagnosis (yu2024clinicopathologiccharacteristicstreatment pages 1-2)	Radical surgery or fertility-sparing conservative resection plus chemotherapy; management should be age- and fertility-tailored (yu2024clinicopathologiccharacteristicstreatment pages 1-2)	“Only 0.5% of primary RMSs are located in the cervix”; 12-case series age 15–50 years, median 17; 10/11 followed patients tumor-free (90.9%); median survival 91 months; 1/4 fertility-sparing patients conceived (25%) (yu2024clinicopathologiccharacteristicstreatment pages 1-2)
DICER1-associated cervical sarcoma	Irregular vaginal bleeding; exophytic cervical tumor in an 18-year-old (altmann2024fertilitysparingstrategyin pages 1-3)	DICER1 mutation; proposed distinct DICER1 sarcoma entity (altmann2024fertilitysparingstrategyin pages 1-3)	Histology with high mitotic activity; IHC: CD56+, calponin+, p53 wildtype, weak panCK <5%; CD34-, S100-, SMA-, desmin-, MyoD1-, caldesmon-, ER-, PR- (altmann2024fertilitysparingstrategyin pages 1-3)	Fertility preservation discussion, oocyte cryopreservation, local resection, doxorubicin + ifosfamide; radiation avoided to preserve fertility in reported case (altmann2024fertilitysparingstrategyin pages 1-3)	Primary cervical sarcomas estimated at ~1.3% of cervical tumors; carcinosarcoma ~50%, leiomyosarcoma/adenosarcoma next, remaining ~9% heterogeneous group; reported tumor 8.5 × 7 × 2.5 cm, Ki-67 90%, up to 15 mitoses/HPF; patient tumor-free at last follow-up (altmann2024fertilitysparingstrategyin pages 1-3)
Extraosseous Ewing sarcoma of the cervix	Vaginal bleeding with cervical mass; usually small round blue cell tumor presentation (xiao2024primaryewing’ssarcoma pages 1-2)	EWSR1–FLI1 fusion in most ES; case confirmed EWSR1–FLI1; EWS/FLI occurs in ~85% and other EWS–ETS fusions in ~15% of ESFT (xiao2024primaryewing’ssarcoma pages 1-2)	H&E small round blue cells; IHC positive CD99, NKX2.2, FLI1; FISH showing EWSR1 disruption; NGS confirming fusion; MRI and FDG-PET used (xiao2024primaryewing’ssarcoma pages 1-2)	Multimodal treatment: hysterectomy-based surgery plus adjuvant/induction chemotherapy, sometimes radiotherapy following ES paradigms (xiao2024primaryewing’ssarcoma pages 1-2)	ES is mostly osseous, with “only about 20% occurring outside the bone”; reported cervical tumor 2.5 × 2.1 × 1.8 cm; disease-free at 1 year in case report (xiao2024primaryewing’ssarcoma pages 1-2)
NTRK-rearranged spindle cell sarcoma / neoplasm of uterine cervix	Often pre/perimenopausal women with abnormal bleeding/menorrhagia or cervical polypoid mass; fibrosarcoma-like spindle cell tumor with cervical predilection (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2)	Recurrent NTRK fusions including TPM3::NTRK1, TFG-NTRK3, NUMA1::NTRK1; NTRK rearrangement drives constitutive Trk activation (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2)	Pan-TRK and CD34 usually diffuse positive; S100 may be negative in some cases; FISH and RNA/targeted NGS are emphasized as confirmatory tests (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2, lu2023casereporta pages 6-7)	Surgery is the initial treatment of choice; TRK inhibitors are important targeted options for recurrent/metastatic disease, and selective Trk inhibitors are specifically highlighted (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2)	Literature estimates vary: “less than 50” uterine NTRK-rearranged sarcomas described in one 2024 report; another review summarized 61 female-genital-tract cases (54 cervix, 7 corpus), mean age 39 years, mean tumor size 7.0 cm; NTRK1-fused tumors may present earlier and have more favorable outcomes (szalai2024ntrkrearrangedspindlecell pages 1-3, feng2025ntrkrearrangedspindlecell pages 1-2)
COL1A1–PDGFB fusion uterine sarcoma at cervix	Vaginal bleeding with cervical/vaginal mass; reported in older women including postmenopausal patients (lu2023casereporta pages 1-2)	COL1A1–PDGFB fusion activating PDGFB/PDGFRB signaling (lu2023casereporta pages 1-2)	RNA sequencing/NGS or FISH required for confirmation; IHC often CD34 positive, while TRK/S100/myogenic markers/hormone receptors often negative; differential includes leiomyoma, LMS, HGESS (lu2023casereporta pages 6-7, lu2023casereporta pages 1-2)	Surgery is standard in localized disease; early precise diagnosis may allow benefit from imatinib (lu2023casereporta pages 1-2, lu2023casereporta pages 6-7)	Only five prior uterine cases plus the reported additional case; reported ages 43–82 years (average 56.7, median 53.5); one imatinib-treated patient’s intra-abdominal mass shrank from 22.4 to 6.5 cm before progression at 14 months (lu2023casereporta pages 6-7)
Cervical leiomyosarcoma	Usually abnormal vaginal bleeding, often perimenopausal; rare cervical smooth muscle sarcoma (ghirardi2019roleofsurgery pages 9-10)	No single defining alteration summarized in retrieved cervix-specific evidence; generally considered part of complex uterine LMS biology (ghirardi2019roleofsurgery pages 9-10)	Pathology criteria suggested include ≥5 cm, infiltrative margins, ≥5 mitoses/10 HPF, and moderate–severe atypia; smooth muscle marker expression helps in differential diagnosis (ghirardi2019roleofsurgery pages 9-10, lu2023casereporta pages 6-7)	Complete surgical excision with negative margins is primary treatment; approaches in reports range from radical hysterectomy to trachelectomy/wide local excision; role of lymphadenectomy limited/uncertain (ghirardi2019roleofsurgery pages 9-10)	Described as “exceedingly rare”; lymphatic spread is low; prognosis favored by complete excision but overall optimal management remains uncertain because of rarity (ghirardi2019roleofsurgery pages 9-10)
Cervical adenosarcoma	Rare Müllerian adenosarcoma, sometimes asymptomatic or incidentally detected; may coexist with other cervical pathology (denschlag2022sarcomaofthe pages 3-4)	No specific recurrent cervical molecular alteration captured in retrieved recent evidence; uterine adenosarcoma classified as epithelial-mesenchymal tumor (denschlag2022sarcomaofthe pages 3-4)	Histopathology and IHC confirm diagnosis; awareness is important because preoperative CT/curettage and frozen section may miss malignancy (denschlag2022sarcomaofthe pages 3-4)	Hysterectomy ± bilateral adnexectomy in reported case; surgery remains main approach in early-stage disease (denschlag2022sarcomaofthe pages 3-4)	Rarely arises in cervix; case report emphasizes that diffuse growth in uterine cavity/cervical canal without symptoms is “even rarer”; patient recovered well after surgery with follow-up (denschlag2022sarcomaofthe pages 3-4)

Table: This table summarizes the main cervical sarcoma subtypes identified in the retrieved evidence, focusing on presentation, molecular features, diagnostics, management, and quantitative findings. It is useful as a compact reference for comparing these rare entities and their actionable biomarkers.

Key Figures/Tables (visual evidence)

Immunohistochemistry and compiled clinicopathologic/molecular findings tables for COL1A1–PDGFB fusion uterine/cervical sarcoma were retrieved from Lu et al., 2023 (Frontiers in Oncology) (lu2023casereporta media bf56b6c0, lu2023casereporta media 92e7e479).

Evidence gaps and limitations (important for knowledge base population)

Ontology identifiers (MONDO/MeSH/ICD/Orphanet/OMIM) for the umbrella term “sarcoma of cervix uteri” were not captured in the accessible retrieved texts using the available tools; downstream curation should map this concept to the preferred ontology term(s) and consider whether the KB entry should be an umbrella class vs subtype-specific entities.
Many cervix-sarcoma claims necessarily rely on case reports/series. Guidelines referenced are primarily uterine sarcoma guidelines and may not be cervix-specific (raycoquard2024esgoeuracangcigguidelinesfor pages 2-3, perezfidalgo2023uterinesarcomasclinical pages 1-1).
Robust incidence, prevalence, and survival estimates for “cervical sarcoma” as a single category remain limited; subtype-specific registries and multi-institutional datasets are needed.

Key Source URLs (with publication dates)

Lu et al. Mar 2023. Frontiers in Oncology: COL1A1–PDGFB fusion uterine sarcoma at cervix. https://doi.org/10.3389/fonc.2023.1108586 (lu2023casereporta pages 1-2)
Xiao et al. May 2024. J Cancer Research and Clinical Oncology: Primary Ewing’s sarcoma of uterine cervix. https://doi.org/10.1007/s00432-024-05698-2 (xiao2024primaryewing’ssarcoma pages 1-2)
Yu et al. Dec 2024. Ginekologia Polska: Cervical rhabdomyosarcoma case series. https://doi.org/10.5603/gpl.96919 (yu2024clinicopathologiccharacteristicstreatment pages 1-2)
Szalai et al. Dec 2024. Virchows Archiv: NUMA1::NTRK1 cervical spindle cell sarcoma. https://doi.org/10.1007/s00428-023-03724-1 (szalai2024ntrkrearrangedspindlecell pages 1-3)
Altmann et al. Jul 2024. Archives of Gynecology and Obstetrics: DICER1-associated cervical sarcoma fertility-sparing strategy. https://doi.org/10.1007/s00404-024-07588-x (altmann2024fertilitysparingstrategyin pages 1-3)
Ray-Coquard et al. Oct 2024. International Journal of Gynecological Cancer: ESGO/EURACAN/GCIG uterine sarcoma guideline. https://doi.org/10.1136/ijgc-2024-005823 (raycoquard2024esgoeuracangcigguidelinesfor pages 2-3)
Pérez-Fidalgo et al. Jan 2023. Therapeutic Advances in Medical Oncology: GEIS uterine sarcoma guidelines. https://doi.org/10.1177/17588359231157645 (perezfidalgo2023uterinesarcomasclinical pages 1-1)

References

(altmann2024fertilitysparingstrategyin pages 1-3): J. Altmann, K. Kubiak, J. Sehouli, and E. Roser. Fertility-sparing strategy in a rare case of highly malignant dicer-1-associated sarcoma of the cervix. Archives of Gynecology and Obstetrics, 310:2617-2621, Jul 2024. URL: https://doi.org/10.1007/s00404-024-07588-x, doi:10.1007/s00404-024-07588-x. This article has 0 citations and is from a peer-reviewed journal.
(ghirardi2019roleofsurgery pages 9-10): Valentina Ghirardi, Nicolò Bizzarri, Francesco Guida, Carmine Vascone, Barbara Costantini, Giovanni Scambia, and Anna Fagotti. Role of surgery in gynaecological sarcomas. Oncotarget, 10:2561-2575, Apr 2019. URL: https://doi.org/10.18632/oncotarget.26803, doi:10.18632/oncotarget.26803. This article has 34 citations.
(yu2024clinicopathologiccharacteristicstreatment pages 1-2): Xiuzhang Yu, Mingrong Qie, Liyan Huang, and Minmin Hou. Clinicopathologic characteristics, treatment, prognosis and pregnancy outcomes in rhabdomyosarcoma of the uterine cervix: a case series. Ginekologia polska, Dec 2024. URL: https://doi.org/10.5603/gpl.96919, doi:10.5603/gpl.96919. This article has 2 citations and is from a peer-reviewed journal.
(szalai2024ntrkrearrangedspindlecell pages 1-3): Luca Szalai, Ildikó Vereczkey, Marianna Szemes, András Rókusz, Erzsébet Csernák, Erika Tóth, and Zsombor Melegh. Ntrk-rearranged spindle cell sarcoma of the uterine cervix with a novel numa1::ntrk1 fusion. Virchows Archiv, 484:527-531, Dec 2024. URL: https://doi.org/10.1007/s00428-023-03724-1, doi:10.1007/s00428-023-03724-1. This article has 11 citations and is from a peer-reviewed journal.
(xiao2024primaryewing’ssarcoma pages 1-2): Yuhang Xiao, Yong Zhi, Guang-xu Cao, Heling Ma, Jinli Gao, and Fang Li. Primary ewing’s sarcoma of the uterine cervix: a case report and review of the literature. Journal of Cancer Research and Clinical Oncology, May 2024. URL: https://doi.org/10.1007/s00432-024-05698-2, doi:10.1007/s00432-024-05698-2. This article has 9 citations and is from a peer-reviewed journal.
(lu2023casereporta pages 6-7): Linghui Lu, Shunni Wang, Haoran Shen, Feiran Zhang, Fenghua Ma, Yue Shi, and Yan Ning. Case report: a case of col1a1–pdgfb fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma. Frontiers in Oncology, Mar 2023. URL: https://doi.org/10.3389/fonc.2023.1108586, doi:10.3389/fonc.2023.1108586. This article has 14 citations.
(raycoquard2024esgoeuracangcigguidelinesfor pages 2-3): Isabelle Ray-Coquard, Paolo Giovanni Casali, Sabrina Croce, Fiona M Fennessy, Daniela Fischerova, Robin Jones, Roberta Sanfilippo, Ignacio Zapardiel, Frédéric Amant, Jean-Yves Blay, Javier Martἰn-Broto, Antonio Casado, Sarah Chiang, Angelo Paolo Dei Tos, Rick Haas, Martee L Hensley, Peter Hohenberger, Jae-Weon Kim, Se Ik Kim, Mehmet Mutlu Meydanli, Patricia Pautier, Albiruni R Abdul Razak, Jalid Sehouli, Winan van Houdt, François Planchamp, and Michael Friedlander. Esgo/euracan/gcig guidelines for the management of patients with uterine sarcomas. Oct 2024. URL: https://doi.org/10.1136/ijgc-2024-005823, doi:10.1136/ijgc-2024-005823. This article has 57 citations and is from a peer-reviewed journal.
(lu2023casereporta pages 1-2): Linghui Lu, Shunni Wang, Haoran Shen, Feiran Zhang, Fenghua Ma, Yue Shi, and Yan Ning. Case report: a case of col1a1–pdgfb fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma. Frontiers in Oncology, Mar 2023. URL: https://doi.org/10.3389/fonc.2023.1108586, doi:10.3389/fonc.2023.1108586. This article has 14 citations.
(feng2025ntrkrearrangedspindlecell pages 1-2): Lulu Feng, Lei Li, Yan-mei He, and Wei Jiang. Ntrk-rearranged spindle cell neoplasm of the female genital tract: case report and literature review. Frontiers in Oncology, Aug 2025. URL: https://doi.org/10.3389/fonc.2025.1525722, doi:10.3389/fonc.2025.1525722. This article has 1 citations.
(lu2023casereporta media bf56b6c0): Linghui Lu, Shunni Wang, Haoran Shen, Feiran Zhang, Fenghua Ma, Yue Shi, and Yan Ning. Case report: a case of col1a1–pdgfb fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma. Frontiers in Oncology, Mar 2023. URL: https://doi.org/10.3389/fonc.2023.1108586, doi:10.3389/fonc.2023.1108586. This article has 14 citations.
(lu2023casereporta media 92e7e479): Linghui Lu, Shunni Wang, Haoran Shen, Feiran Zhang, Fenghua Ma, Yue Shi, and Yan Ning. Case report: a case of col1a1–pdgfb fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma. Frontiers in Oncology, Mar 2023. URL: https://doi.org/10.3389/fonc.2023.1108586, doi:10.3389/fonc.2023.1108586. This article has 14 citations.
(perezfidalgo2023uterinesarcomasclinical pages 1-1): Jose Alejandro Pérez-Fidalgo, Eugenia Ortega, Jordi Ponce, Andres Redondo, Isabel Sevilla, Claudia Valverde, Josep Isern Verdum, Enrique de Alava, Mar Galera López, Gloria Marquina, and Ana Sebio. Uterine sarcomas: clinical practice guidelines for diagnosis, treatment, and follow-up, by spanish group for research on sarcomas (geis). Therapeutic Advances in Medical Oncology, Jan 2023. URL: https://doi.org/10.1177/17588359231157645, doi:10.1177/17588359231157645. This article has 65 citations and is from a peer-reviewed journal.
(denschlag2022sarcomaofthe pages 3-4): Dominik Denschlag, Sven Ackermann, Marco Johannes Battista, Wolfgang Cremer, Gerlinde Egerer, Matthias Fehr, Markus Follmann, Heidemarie Haase, Philipp Harter, Simone Hettmer, Lars-Christian Horn, Ingolf Juhasz-Boess, Karin Kast, Günter Köhler, Thomas Kröncke, Katja Lindel, Peter Mallmann, Regine Meyer-Steinacker, Alexander Mustea, Edgar Petru, Peter Reichardt, Dietmar Schmidt, Hans-Georg Strauss, Falk Thiel, Uwe Andreas Ulrich, Thomas Vogl, Dirk Vordermark, Markus Wallwiener, Paul Gass, and Matthias W. Beckmann. Sarcoma of the uterus. guideline of the dggg, oeggg and sggg (s2k-level, awmf registry no. 015/074, april 2021). Geburtshilfe und Frauenheilkunde, 82:1337-1367, Dec 2022. URL: https://doi.org/10.1055/a-1897-5124, doi:10.1055/a-1897-5124. This article has 34 citations and is from a peer-reviewed journal.
(perezfidalgo2023uterinesarcomasclinical pages 1-3): Jose Alejandro Pérez-Fidalgo, Eugenia Ortega, Jordi Ponce, Andres Redondo, Isabel Sevilla, Claudia Valverde, Josep Isern Verdum, Enrique de Alava, Mar Galera López, Gloria Marquina, and Ana Sebio. Uterine sarcomas: clinical practice guidelines for diagnosis, treatment, and follow-up, by spanish group for research on sarcomas (geis). Therapeutic Advances in Medical Oncology, Jan 2023. URL: https://doi.org/10.1177/17588359231157645, doi:10.1177/17588359231157645. This article has 65 citations and is from a peer-reviewed journal.

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References

Deep Research

1. Disease Information

1.1 Overview / definition (current understanding)

1.2 Common synonyms / alternative names

1.3 Data provenance

2. Etiology

2.1 Disease causal factors

2.2 Risk factors

2.3 Protective factors / GxE

3. Phenotypes (clinical presentation)

3.1 Common presenting phenotypes (with suggested HPO terms)

3.2 Age of onset / severity / progression

3.3 Quality of life impact

4. Genetic / Molecular Information

4.1 Key actionable or defining alterations (recent 2023–2024 emphasis)

A) NTRK-rearranged spindle cell sarcoma/neoplasm of uterine cervix

B) COL1A1–PDGFB fusion uterine/cervical sarcoma

C) Extraosseous Ewing sarcoma of cervix

D) DICER1-associated cervical sarcoma

4.2 Variant types / somatic vs germline

4.3 Epigenetics / modifier genes

5. Environmental Information

6. Mechanism / Pathophysiology

6.1 Fusion-kinase driven signaling (upstream driver)

6.2 Transcriptional-program driven oncogenesis

6.3 miRNA processing pathway disruption

7. Anatomical Structures Affected

7.1 Primary anatomic site

7.2 Tissue/cell level

8. Temporal Development

8.1 Onset and course

9. Inheritance and Population

9.1 Epidemiology (key statistics)

9.2 Population demographics

10. Diagnostics

10.1 Core diagnostic workflow (cross-cutting principles)

10.2 Histopathology + immunohistochemistry + molecular confirmation

10.3 Suggested biomarkers / markers (examples)

10.4 Differential diagnosis

11. Outcome / Prognosis

11.1 Reported outcomes (recent series/cases)

11.2 Prognostic factors (high-level)

12. Treatment

12.1 Current applications / real-world implementation

Cross-cutting expert/guideline principles

Surgical management

Chemotherapy / radiotherapy

Targeted therapy

12.2 MAXO term suggestions (examples)

13. Prevention

14. Other Species / Natural Disease

15. Model Organisms

Summary Table (cross-subtype comparison)

Key Figures/Tables (visual evidence)

Evidence gaps and limitations (important for knowledge base population)

Key Source URLs (with publication dates)

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