Embryonal rhabdomyosarcoma (ERMS) is the most common subtype of rhabdomyosarcoma, accounting for approximately 60-70% of cases. It typically affects children under 10 years of age with favorable primary sites including orbit, head and neck, and genitourinary tract. ERMS is characterized by loss of heterozygosity at 11p15, the locus containing IGF2 and other imprinted genes. Unlike alveolar rhabdomyosarcoma, ERMS lacks characteristic fusion genes and instead harbors a variety of mutations in RAS pathway genes. ERMS generally has a better prognosis than fusion-positive alveolar rhabdomyosarcoma, with 5-year survival rates exceeding 70% for localized disease.
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name: Embryonal Rhabdomyosarcoma
creation_date: '2026-01-26T02:55:13Z'
description: >-
Embryonal rhabdomyosarcoma (ERMS) is the most common subtype of rhabdomyosarcoma,
accounting for approximately 60-70% of cases. It typically affects children under
10 years of age with favorable primary sites including orbit, head and neck, and
genitourinary tract. ERMS is characterized by loss of heterozygosity at 11p15,
the locus containing IGF2 and other imprinted genes. Unlike alveolar rhabdomyosarcoma,
ERMS lacks characteristic fusion genes and instead harbors a variety of mutations
in RAS pathway genes. ERMS generally has a better prognosis than fusion-positive
alveolar rhabdomyosarcoma, with 5-year survival rates exceeding 70% for localized
disease.
categories:
- Pediatric Cancer
- Soft Tissue Sarcoma
- Sarcoma
parents:
- rhabdomyosarcoma
has_subtypes:
- name: Botryoid Embryonal Rhabdomyosarcoma
description: >-
A variant that grows as grape-like polypoid masses in mucosal-lined hollow
organs such as the bladder, vagina, and nasopharynx. Has the best prognosis
among ERMS variants.
- name: Spindle Cell Embryonal Rhabdomyosarcoma
description: >-
A variant with elongated spindle-shaped cells. When arising in paratesticular
region, has excellent prognosis. Some cases harbor MYOD1 mutations.
genes:
- preferred_term: MYOD1
term:
id: hgnc:7611
label: MYOD1
- name: Anaplastic Embryonal Rhabdomyosarcoma
description: >-
A variant with marked nuclear pleomorphism and anaplasia. Associated with
TP53 mutations and carries a worse prognosis.
genes:
- preferred_term: TP53
term:
id: hgnc:11998
label: TP53
pathophysiology:
- name: Loss of Heterozygosity at 11p15
description: >-
Loss of heterozygosity (LOH) at chromosome 11p15.5 is the hallmark genetic
event in ERMS. This region contains the imprinted IGF2 gene, and LOH results
in loss of the maternal allele with duplication of the paternal allele,
leading to biallelic IGF2 expression and growth factor pathway activation.
No frequency is stated here: the sources cited on this node establish that
the lesion is characteristic and that it commonly takes the form of paternal
uniparental disomy, but none of them reports a share of ERMS tumours
carrying it.
genetic_context:
variant_origin: SOMATIC
allele_type: Loss of heterozygosity across the imprinted 11p15.5 interval
functional_impact_category: UNKNOWN
description: >-
The transforming lesion is a somatic, region-level allelic loss with
duplication of the paternal allele rather than a coding variant, so no
single functional impact category describes it. It is recorded as the
somatic event of this entry so the cell of origin derives from this
node's cell type.
genes:
- preferred_term: IGF2
term:
id: hgnc:5466
label: IGF2
evidence:
- reference: PMID:10095436
reference_title: "[Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma]."
supports: SUPPORT
snippet: "Allelic losses of 11p15.5 are characteristic of embryonal RMS (eRMS), whereas an increase in the expression of the Igf2 gene located on 11p15.5 has regularly been observed in eRMS and alveolar RMS (aRMS)."
explanation: "Supports characteristic 11p15.5 LOH and IGF2 dysregulation in ERMS."
- reference: PMID:27589201
reference_title: >-
Paternal uniparental disomy with segmental loss of heterozygosity of
chromosome 11 are hallmark characteristics of syndromic and sporadic
embryonal rhabdomyosarcoma.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
a second primary ERMS tumor showed UPD limited to 11p15.5, the classical
hallmark for ERMS
explanation: >-
Independent statement that 11p15.5 uniparental disomy is the classical
hallmark lesion of embryonal rhabdomyosarcoma, and the source for the
paternal-uniparental-disomy form of it described above.
cell_types:
- preferred_term: skeletal muscle myoblast
term:
id: CL:0000515
label: skeletal muscle myoblast
biological_processes:
- preferred_term: cell population proliferation
modifier: INCREASED
term:
id: GO:0008283
label: cell population proliferation
downstream:
- target: IGF2 Overexpression
description: Loss of imprinting leads to biallelic IGF2 expression
- name: IGF2 Overexpression
description: >-
Loss of imprinting at 11p15 results in biallelic expression of IGF2, leading
to autocrine and paracrine growth stimulation through IGF1R signaling. This
promotes cell proliferation and survival in ERMS cells.
genes:
- preferred_term: IGF2
term:
id: hgnc:5466
label: IGF2
evidence:
- reference: PMID:10095436
reference_title: "[Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma]."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Allelic losses of 11p15.5 are characteristic of embryonal RMS (eRMS),
whereas an increase in the expression of the Igf2 gene located on
11p15.5 has regularly been observed in eRMS and alveolar RMS (aRMS).
explanation: >-
Directly supports IGF2 overexpression as a characteristic consequence
of 11p15.5 allelic loss in ERMS.
biological_processes:
- preferred_term: regulation of cell population proliferation
modifier: ABNORMAL
term:
id: GO:0042127
label: regulation of cell population proliferation
- name: RAS Pathway Activation
description: >-
Activating mutations in RAS pathway genes (NRAS, KRAS, HRAS) occur in
approximately 27% of ERMS cases. FGFR4 kinase-domain mutations were found in
7 of 94 (7.5%) primary rhabdomyosarcoma tumours in the study that first
reported them - note that denominator is rhabdomyosarcoma overall rather
than ERMS specifically. These mutations drive proliferation through MAPK and
PI3K pathway activation.
genes:
- preferred_term: NRAS
term:
id: hgnc:7989
label: NRAS
- preferred_term: KRAS
term:
id: hgnc:6407
label: KRAS
- preferred_term: HRAS
term:
id: hgnc:5173
label: HRAS
- preferred_term: FGFR4
term:
id: hgnc:3691
label: FGFR4
- preferred_term: PIK3CA
term:
id: hgnc:8975
label: PIK3CA
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In conclusion, RAS mutations occur in 27% of ERMS, with NRAS mutations
encompassing half of the cases.
explanation: >-
Directly supports activating RAS-family mutations (with NRAS
predominating) as a common oncogenic driver subset in ERMS.
- reference: PMID:19809159
reference_title: >-
Identification of FGFR4-activating mutations in human rhabdomyosarcomas
that promote metastasis in xenotransplanted models.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Moreover, 6 FGFR4 tyrosine kinase domain mutations were found among 7 of
94 (7.5%) primary human RMS tumors.
explanation: >-
Source for the FGFR4 mutation frequency quoted in this node's
description, including its rhabdomyosarcoma-wide denominator.
biological_processes:
- preferred_term: MAPK cascade
modifier: INCREASED
term:
id: GO:0000165
label: MAPK cascade
histopathology:
- name: Rhabdomyosarcoma
finding_term:
preferred_term: Rhabdomyosarcoma
term:
id: NCIT:C3359
label: Rhabdomyosarcoma
frequency: VERY_FREQUENT
description: Rhabdomyosarcoma is a malignant tumor of mesenchymal origin.
evidence:
- reference: PMID:10337369
reference_title: "Rhabdomyosarcoma: an overview."
supports: SUPPORT
snippet: "Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin thought to"
explanation: Abstract describes rhabdomyosarcoma as a malignant tumor of mesenchymal origin.
phenotypes:
- category: Musculoskeletal
name: Soft Tissue Mass
frequency: VERY_FREQUENT
diagnostic: true
description: >-
A soft tissue mass is the most common presentation. Location varies by
age and subtype, with head and neck common in younger children and
genitourinary sites in adolescents.
phenotype_term:
preferred_term: Soft tissue neoplasm
term:
id: HP:0031459
label: Soft tissue neoplasm
evidence:
- reference: PMID:29939543
reference_title: Rhabdomyosarcoma.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Rhabdomyosarcoma (RMS) is a malignant soft tissue sarcoma that is
believed to originate from primitive mesenchymal cells that typically
differentiate into skeletal tissue.
explanation: >-
Supports presentation as a malignant soft tissue neoplasm for
rhabdomyosarcoma, including ERMS.
- category: Ophthalmologic
name: Proptosis
frequency: FREQUENT
description: >-
Orbital ERMS commonly presents with proptosis and is associated with
excellent prognosis. The orbit is a favorable primary site.
phenotype_term:
preferred_term: Proptosis
term:
id: HP:0000520
label: Proptosis
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Tumor sites varied with H&N and GU sites accounting for 62% of cases.
explanation: >-
Indirectly supports head and neck site enrichment in ERMS; it does
not directly document proptosis as a presenting symptom.
- category: Genitourinary
name: Hematuria
frequency: OCCASIONAL
description: >-
Bladder or prostate ERMS may present with hematuria or urinary obstruction.
phenotype_term:
preferred_term: Hematuria
term:
id: HP:0000790
label: Hematuria
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Tumor sites varied with H&N and GU sites accounting for 62% of cases.
explanation: >-
Indirectly supports genitourinary site enrichment in ERMS; it does
not directly document hematuria as a presenting symptom.
- category: Constitutional
name: Weight Loss
frequency: OCCASIONAL
description: >-
Weight loss and failure to thrive may occur with advanced disease.
phenotype_term:
preferred_term: Weight loss
term:
id: HP:0001824
label: Weight loss
biochemical:
- name: Myogenic Markers
notes: >-
Immunohistochemistry demonstrates myogenic markers including desmin,
myogenin, and MyoD1. Myogenin expression is typically focal and less
intense than in alveolar rhabdomyosarcoma.
genetic:
- name: Loss of Heterozygosity at 11p15
association: Characteristic Genetic Event
notes: >-
LOH at 11p15.5 with loss of the maternal allele, leading to biallelic IGF2
expression. This is the hallmark somatic lesion of ERMS; see the
pathophysiology node of the same name for why no frequency is quoted.
evidence:
- reference: PMID:10095436
reference_title: "[Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma]."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Allelic losses of 11p15.5 are characteristic of embryonal RMS (eRMS),
whereas an increase in the expression of the Igf2 gene located on
11p15.5 has regularly been observed in eRMS and alveolar RMS (aRMS).
explanation: >-
Supports 11p15.5 LOH as the characteristic genetic lesion in ERMS with
associated IGF2 deregulation.
- name: NRAS somatic activating mutations
association: Oncogenic Driver Mutation
relationship_type: SOMATIC_DRIVER
variant_origin: SOMATIC
gene_term:
preferred_term: NRAS
term:
id: hgnc:7989
label: NRAS
notes: >-
NRAS is the most frequently mutated of the three RAS isoforms in ERMS. In
the MSK series of 26 RAS/RAF-mutant tumours screened from 98 ERMS, 14 (54%)
carried an NRAS mutation, and RAS mutations as a class were present in 27%
of ERMS. The alterations are somatic and are the entry's link to the RAS
Pathway Activation node.
case_fractions:
- population: MSK ERMS series screened for RAS/RAF mutations (98 tumours)
case_fraction_percent: 27.0
cohort_size: 98
notes: >-
Class-level figure for RAS mutations (NRAS, KRAS or HRAS combined) rather
than for NRAS alone; the per-isoform shares below are fractions of the
26 RAS/RAF-mutant cases, not of the 98 screened.
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In conclusion, RAS mutations occur in 27% of ERMS, with NRAS mutations
encompassing half of the cases.
explanation: Quantifies the RAS-mutant share of ERMS in this cohort.
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Fourteen (54%) cases had NRAS mutations, 6 (23%) had KRAS mutations, 5
(19%) had HRAS mutations, and 1 case (4%) had BRAF mutation.
explanation: >-
Gives the NRAS share of the RAS/RAF-mutant ERMS subset in this cohort.
- name: KRAS somatic activating mutations
association: Oncogenic Driver Mutation
relationship_type: SOMATIC_DRIVER
variant_origin: SOMATIC
gene_term:
preferred_term: KRAS
term:
id: hgnc:6407
label: KRAS
notes: >-
The second most frequent RAS isoform in the RAS/RAF-mutant ERMS subset, at
6 of 26 cases. The reported hot spot in this series is p.G12D.
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Fourteen (54%) cases had NRAS mutations, 6 (23%) had KRAS mutations, 5
(19%) had HRAS mutations, and 1 case (4%) had BRAF mutation.
explanation: >-
Gives the KRAS share of the RAS/RAF-mutant ERMS subset in this cohort.
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
RAS isoform hot spot mutations predominated: NRAS p.Q61K (57%), KRAS
p.G12D (67%), and HRAS (codons 12, 14, and 61).
explanation: >-
Source for the KRAS p.G12D hot spot named in this record's note, and for
the corresponding NRAS and HRAS hot spots.
- name: HRAS somatic activating mutations
association: Oncogenic Driver Mutation
relationship_type: SOMATIC_DRIVER
variant_origin: SOMATIC
gene_term:
preferred_term: HRAS
term:
id: hgnc:5173
label: HRAS
notes: >-
The least frequent of the three RAS isoforms in the same series, at 5 of 26
cases. Germline HRAS variants cause Costello syndrome, which carries its own
rhabdomyosarcoma predisposition; the alterations recorded here are somatic
and tumour-restricted.
evidence:
- reference: PMID:34755412
reference_title: >-
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma
driven by RAS/RAF mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Fourteen (54%) cases had NRAS mutations, 6 (23%) had KRAS mutations, 5
(19%) had HRAS mutations, and 1 case (4%) had BRAF mutation.
explanation: >-
Gives the HRAS share of the RAS/RAF-mutant ERMS subset in this cohort.
- reference: PMID:24382691
reference_title: "Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
quote_role: BACKGROUND
snippet: >-
In humans, genetic susceptibility to develop RMS has been linked to
germline mutations in PTCH1, HRAS, NF1, DICER1, and TP53.
explanation: >-
Source for the germline-predisposition caveat in the note; quoted from
this paper's introduction, where it restates established human genetics
rather than reporting its own result.
- reference: PMID:27589201
reference_title: >-
Paternal uniparental disomy with segmental loss of heterozygosity of
chromosome 11 are hallmark characteristics of syndromic and sporadic
embryonal rhabdomyosarcoma.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Costello syndrome (CS) arises from a typically paternally derived germline
mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS
results in failure-to-thrive, intellectual disabilities, short stature,
coarse facial features, skeletal abnormalities, congenital heart disease,
and a predisposition for cancer, most commonly embryonal rhabdomyosarcoma
(ERMS).
explanation: >-
Names Costello syndrome as the germline HRAS disorder and embryonal
rhabdomyosarcoma as the tumour it most commonly predisposes to, which is
the caveat recorded in this record's note.
- name: FGFR4 somatic activating mutations
association: Receptor tyrosine kinase driver alteration
relationship_type: SOMATIC_DRIVER
variant_origin: SOMATIC
gene_term:
preferred_term: FGFR4
term:
id: hgnc:3691
label: FGFR4
notes: >-
FGFR4 sits on the same receptor tyrosine kinase/RAS/PI3K axis as the RAS
isoforms above and is named in the RAS Pathway Activation node. The
comprehensive rhabdomyosarcoma sequencing study lists it among the
recurrently mutated genes and reports that alteration of that axis affects
the large majority of rhabdomyosarcoma tumours.
evidence:
- reference: PMID:24436047
reference_title: >-
Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of
alterations affecting a common genetic axis in fusion-positive and
fusion-negative tumors.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In addition to previously reported mutations in NRAS, KRAS, HRAS, FGFR4,
PIK3CA, and CTNNB1, we found novel recurrent mutations in FBXW7 and BCOR,
providing potential new avenues for therapeutic intervention.
explanation: >-
Places FGFR4 among the recurrently mutated genes in the 147 tumour/normal
pair rhabdomyosarcoma sequencing study.
- reference: PMID:24436047
reference_title: >-
Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of
alterations affecting a common genetic axis in fusion-positive and
fusion-negative tumors.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Furthermore, alteration of the receptor tyrosine kinase/RAS/PIK3CA axis
affects 93% of cases, providing a framework for genomics-directed
therapies that might improve outcomes for patients with rhabdomyosarcoma.
explanation: >-
Establishes the RTK/RAS/PI3K axis, of which FGFR4 is the receptor-level
member, as the dominant altered pathway in rhabdomyosarcoma.
- reference: PMID:19809159
reference_title: >-
Identification of FGFR4-activating mutations in human rhabdomyosarcomas
that promote metastasis in xenotransplanted models.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Moreover, 6 FGFR4 tyrosine kinase domain mutations were found among 7 of
94 (7.5%) primary human RMS tumors.
explanation: >-
The primary report of activating FGFR4 kinase-domain mutations in human
rhabdomyosarcoma, with the frequency in that tumour series. Note the
denominator is rhabdomyosarcoma overall rather than embryonal
rhabdomyosarcoma specifically.
- name: MYOD1 p.Leu122Arg neomorphic mutation
association: Oncogenic Driver Mutation defining a poor-outcome ERMS subset
relationship_type: SOMATIC_DRIVER
variant_origin: SOMATIC
subtype: Spindle Cell Embryonal Rhabdomyosarcoma
gene_term:
preferred_term: MYOD1
term:
id: hgnc:7611
label: MYOD1
notes: >-
A single recurrent somatic substitution, p.Leu122Arg, in the basic domain of
the myogenic transcription factor MYOD1. It is neomorphic rather than a
simple loss: the substituted residue is the one that differs between the
myogenic and the MYC-family bHLH factors, so the mutant both blocks
wild-type MYOD1 function and binds MYC consensus sites - a switch from
differentiation to proliferation. The tumours are frequently spindle-cell in
morphology, which is why this entry keys the record to that subtype, and
they co-occur with PI3K-AKT pathway mutations.
case_fractions:
- population: ERMS tumours genotyped for MYOD1 Leu122Arg (Kohsaka et al.)
case_fraction_percent: 10.0
cohort_size: 104
notes: 10 of 104 ERMS carried the p.Leu122Arg substitution.
evidence:
- reference: PMID:24793135
reference_title: >-
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive
subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway
mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The mutation was detected in 8 additional cases (and confirmed as
somatic in 6 cases with available normal DNA), resulting in an overall
prevalence of approximately 10% (10/104)
explanation: Gives the cohort size and the MYOD1-mutant share of ERMS.
evidence:
- reference: PMID:24793135
reference_title: >-
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive
subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway
mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Here we report the discovery, through whole-exome sequencing, of a
recurrent somatic mutation encoding p.Leu122Arg in the myogenic
transcription factor MYOD1 in a distinct subset of ERMS tumors with poor
outcomes that also often contain mutations altering PI3K-AKT pathway
components.
explanation: >-
Establishes MYOD1 p.Leu122Arg as a recurrent somatic ERMS driver, its
prognostic significance, and its co-occurrence with PI3K-AKT alterations.
- reference: PMID:24793135
reference_title: >-
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive
subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway
mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The ERMS harboring the MYOD1 Leu122Arg mutation displayed high
cellularity and frequent spindle cell morphology with strong positivity
for MYOD1 by immunohistochemistry (IHC)
explanation: >-
Supports keying this record to the spindle cell ERMS subtype rather than
to the entry as a whole.
- reference: PMID:24793135
reference_title: >-
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive
subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway
mutations.
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
Previous mutagenesis studies had shown that MYOD1 with a p.Leu122Arg
substitution can block wild-type MYOD1 function and bind to MYC consensus
sequences, suggesting a possible switch from differentiation to
proliferation.
explanation: >-
The neomorphic mechanism recorded in this record's note: the mutant both
blocks wild-type MYOD1 and acquires MYC-like binding.
- name: PIK3CA somatic mutations
association: Cooperating PI3K-AKT pathway alteration
relationship_type: COOPERATING
variant_origin: SOMATIC
gene_term:
preferred_term: PIK3CA
term:
id: hgnc:8975
label: PIK3CA
notes: >-
Recorded as COOPERATING rather than as an independent driver: in the series
that defined the MYOD1 Leu122Arg subset, every PIK3CA-mutant tumour with
genotyping for both was also MYOD1 Leu122Arg-mutant, and the two together
inhibited differentiation and increased colony formation more than either
alone in myoblast assays.
evidence:
- reference: PMID:24793135
reference_title: >-
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive
subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway
mutations.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The relationship between MYOD1 Leu122Arg and PIK3CA mutations appeared
significant in the 66 cases with genotyping data for both (PIK3CA
mutations in 3/10 MYOD1 Leu122Arg cases vs 0/56 MYOD1 wild type cases;
explanation: >-
Supports the co-occurrence claim and the restriction of PIK3CA mutation
to the MYOD1-mutant subset in this cohort.
- reference: PMID:24793135
reference_title: >-
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive
subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway
mutations.
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
only the combination of PIK3CA H1047R and MYOD1 Leu122Arg resulted in
increased colony formation; notably, combining wild type MYOD1 with
PIK3CA H1047R did not cause a similar increase
explanation: >-
The cooperation claim in this record's note, measured in myoblast
soft-agar colony formation.
- name: IGF2 biallelic expression from 11p15 loss of imprinting
association: Growth factor deregulated by the hallmark 11p15 lesion
relationship_type: SOMATIC_DRIVER
variant_origin: SOMATIC
gene_term:
preferred_term: IGF2
term:
id: hgnc:5466
label: IGF2
notes: >-
IGF2 is bound here as a gene whose dosage is deregulated, not as a gene
carrying a coding mutation: the lesion is loss of heterozygosity and loss of
imprinting across 11p15.5, which converts monoallelic to biallelic IGF2
expression. That is why the entry keeps a separate region-level record for
the 11p15 event above and binds IGF2 to the consequence.
evidence:
- reference: PMID:10095436
reference_title: "[Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma]."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Allelic losses of 11p15.5 are characteristic of embryonal RMS (eRMS),
whereas an increase in the expression of the Igf2 gene located on
11p15.5 has regularly been observed in eRMS and alveolar RMS (aRMS).
explanation: >-
Links the characteristic 11p15.5 allelic loss to increased IGF2
expression in embryonal rhabdomyosarcoma.
- name: TP53 germline predisposition
association: Germline predisposition, strongly enriched in the anaplastic variant
relationship_type: RISK_FACTOR
variant_origin: GERMLINE
subtype: Anaplastic Embryonal Rhabdomyosarcoma
gene_term:
preferred_term: TP53
term:
id: hgnc:11998
label: TP53
notes: >-
The TP53 association in ERMS is predominantly a germline predisposition
rather than a recurrent somatic driver, and it is concentrated in the
anaplastic variant. In the series below, every rhabdomyosarcoma arising in a
TP53 germline carrier was nonalveolar and anaplastic, and germline TP53
variants were found in 11 of 15 children with anaplastic rhabdomyosarcoma.
The authors propose extending the Chompret criteria on that basis.
Graded RISK_FACTOR rather than CAUSATIVE because a germline TP53 variant
predisposes to a spectrum of malignancies and is neither necessary nor
sufficient for this one. The predisposition syndrome itself is curated
separately as Li-Fraumeni Syndrome, per the cancer-granularity rule that
germline predisposition syndromes stay distinct from the somatic tumour
entries they predispose to.
evidence:
- reference: PMID:24382691
reference_title: "Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
RMS tumors diagnosed in 11 TP53 germline mutation carriers all exhibited
nonalveolar, anaplastic histology as evidenced by the presence of enlarged
hyperchromatic nuclei with or without atypical mitotic figures.
explanation: >-
Ties germline TP53 status specifically to the anaplastic, nonalveolar
histology this record is keyed to.
- reference: PMID:24382691
reference_title: "Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The overall frequency of TP53 germline mutations was 73% (11 of 15
children) in pediatric patients with anRMS.
explanation: >-
Quantifies the germline TP53 frequency in paediatric anaplastic
rhabdomyosarcoma.
- name: DICER1 germline predisposition
association: Germline predisposition shared with pleuropulmonary blastoma
relationship_type: RISK_FACTOR
variant_origin: GERMLINE_AND_SOMATIC
gene_term:
preferred_term: DICER1
term:
id: hgnc:17098
label: DICER1
notes: >-
Embryonal rhabdomyosarcoma is part of the DICER1 tumour-predisposition
spectrum, which it shares with pleuropulmonary blastoma. In the study
below, germline DICER1 variants were present in all four children who had
both familial pleuropulmonary blastoma and ERMS, while somatic DICER1
variants appeared in a small minority of sporadic ERMS tumours.
Recorded as GERMLINE_AND_SOMATIC because both allele states are reported in
that single study, and as RISK_FACTOR rather than CAUSATIVE for the same
reason as TP53: a germline DICER1 variant predisposes to a spectrum of
tumours and is neither necessary nor sufficient for this one. The
predisposition syndrome itself belongs in its own entry, not here.
evidence:
- reference: PMID:22180160
reference_title: >-
DICER1 mutations in embryonal rhabdomyosarcomas from children with and
without familial PPB-tumor predisposition syndrome.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Germline DICER1 mutations were found in all four patients with familial
PPB and 2 of 52 (3.8%) sporadic ERMS had somatic mutations.
explanation: >-
Gives both allele states behind this record: germline variants in the
familial pleuropulmonary blastoma cases, somatic variants in a small
minority of sporadic ERMS.
- reference: PMID:22180160
reference_title: >-
DICER1 mutations in embryonal rhabdomyosarcomas from children with and
without familial PPB-tumor predisposition syndrome.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Embryonal rhabdomyosarcoma (ERMS) is the most common childhood sarcoma
and is a component of the familial pleuropulmonary blastoma
(PPB)-predisposition syndrome.
explanation: >-
States the membership of ERMS in the pleuropulmonary blastoma
predisposition spectrum, which is the framing of this record.
- name: NF1 germline predisposition
association: Germline predisposition, observed in a small minority of treated patients
relationship_type: RISK_FACTOR
variant_origin: GERMLINE
gene_term:
preferred_term: NF1
term:
id: hgnc:7765
label: NF1
notes: >-
Neurofibromatosis type 1 is named alongside TP53 and DICER1 in the standard
list of germline predispositions to rhabdomyosarcoma. The quantitative
evidence recorded here is an observed co-occurrence: 5 of 1,025 children
enrolled in Intergroup Rhabdomyosarcoma Study IV had NF1.
Read that as a share of a treatment cohort and not as a relative risk. The
study reports no comparison against a general-population rate, so it
establishes that the two co-occur and roughly how often among treated
children, and not by how much NF1 raises the risk.
PTCH1 appears in the same predisposition list but is not curated here. A
PubMed search in September 2026 for rhabdomyosarcoma with nevoid basal cell
carcinoma syndrome or Gorlin syndrome, and for PTCH1 germline mutation with
rhabdomyosarcoma, returned a case report and a mouse model of Gorlin
syndrome rather than a human series, which is thinner than the evidence
behind the three records above.
evidence:
- reference: PMID:15127010
reference_title: "Neurofibromatosis in children with Rhabdomyosarcoma: a report from the Intergroup Rhabdomyosarcoma study IV."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Among 1025 eligible patients, 5 (0.5 %) had NF1.
explanation: >-
The observed co-occurrence frequency of NF1 among children treated for
rhabdomyosarcoma in a cooperative-group trial, and the whole quantitative
basis of this record.
- reference: PMID:24382691
reference_title: "Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
quote_role: BACKGROUND
snippet: >-
In humans, genetic susceptibility to develop RMS has been linked to
germline mutations in PTCH1, HRAS, NF1, DICER1, and TP53.
explanation: >-
Places NF1 in the established list of germline predispositions to
rhabdomyosarcoma; quoted from this paper's introduction, where it
restates established human genetics rather than reporting its own result.
- name: SLC22A18 (SLC67A1)
association: Reported 11p15.5 candidate, not supported as an ERMS driver
relationship_type: DISPUTED
variant_origin: SOMATIC
gene_term:
preferred_term: SLC67A1
term:
id: hgnc:10964
label: SLC22A18
notes: >-
Recorded here because MONDO asserts this gene as the somatic-mutation basis
of embryonal rhabdomyosarcoma - `MONDO:0009993 RO:0004004 HGNC:10964` - and
a reader comparing dismech with MONDO should find the claim addressed rather
than absent. It is graded DISPUTED after investigation.
What the assertion rests on is a single point mutation in a single
rhabdomyosarcoma cell line, TE125-T, reported in 1998 in a paper whose
subject was the transcriptional map of a 170 kb interval at 11p15.5 and
whose own conclusion was the hedged "BWR1A may play a role in
tumorigenesis". The same paper reports one further alteration, in a breast
cancer cell line. There is no patient tumour series, no recurrence, and no
functional demonstration in rhabdomyosarcoma.
Two further considerations argue against reading it as a driver. The gene
lies inside the 11p15.5 imprinted interval whose loss of heterozygosity is
the hallmark somatic event of ERMS, so any alteration found there is a
candidate for being a passenger of the regional lesion the entry already
models. And the comprehensive rhabdomyosarcoma sequencing study of 147
tumour/normal pairs names NRAS, KRAS, HRAS, FGFR4, PIK3CA, CTNNB1, FBXW7 and
BCOR as the recurrently altered genes; this gene is not among them.
Nomenclature note: HGNC renamed this gene from SLC22A18 to SLC67A1, which is
why MONDO's axiom prints the newer symbol. The OBO build this repository
validates against still carries SLC22A18, so `term.label` holds that value
while `preferred_term` records the current HGNC symbol.
evidence:
- reference: PMID:9520460
reference_title: >-
Transcriptional map of 170-kb region at chromosome 11p15.5:
identification and mutational analysis of the BWR1A gene reveals the
presence of mutations in tumor samples.
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
we carried out a mutational analysis in tumor cell lines and
Beckwith-Wiedemann syndrome samples that resulted in the identification of
genetic alterations in the BWR1A gene: an insertion that introduced a stop
codon in the breast cancer cell line BT549 and a point mutation in the
rhabdomyosarcoma cell line TE125-T.
explanation: >-
The entirety of the primary observation behind the MONDO assertion: one
point mutation in one rhabdomyosarcoma cell line.
- reference: PMID:9520460
reference_title: >-
Transcriptional map of 170-kb region at chromosome 11p15.5:
identification and mutational analysis of the BWR1A gene reveals the
presence of mutations in tumor samples.
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
These results indicate that BWR1A may play a role in tumorigenesis.
explanation: >-
The authors' own conclusion, which claims a possible role in tumorigenesis
generally and not that the gene causes embryonal rhabdomyosarcoma.
- reference: PMID:24436047
reference_title: >-
Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of
alterations affecting a common genetic axis in fusion-positive and
fusion-negative tumors.
supports: REFUTE
evidence_source: HUMAN_CLINICAL
snippet: >-
Despite a relatively low mutation rate, multiple genes were recurrently
altered, including NRAS, KRAS, HRAS, FGFR4, PIK3CA, CTNNB1, FBXW7, and
BCOR.
explanation: >-
The recurrently altered gene list from 147 rhabdomyosarcoma tumour/normal
pairs does not include this gene, which is evidence against a recurrent
driver role even though it is not a targeted test of the claim.
treatments:
- name: Multi-Agent Chemotherapy
description: >-
Standard chemotherapy includes vincristine, actinomycin D, and cyclophosphamide
(VAC). Treatment intensity is risk-stratified based on stage, site, and
resectability. Low-risk patients may receive less intensive therapy.
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
evidence:
- reference: PMID:32630642
reference_title: Recent Advances and Challenges in the Treatment of Rhabdomyosarcoma.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The standard chemotherapy regimen for patients with rhabdomyosarcoma
is the combination of vincristine, actinomycin, and
cyclophosphamide/ifosfamide.
explanation: >-
Directly supports the VAC (vincristine, actinomycin, cyclophosphamide)
regimen as the standard multi-agent chemotherapy backbone in RMS.
- name: Surgical Resection
description: >-
Complete surgical resection when feasible without significant morbidity.
For favorable sites like orbit, chemotherapy may allow for organ preservation.
therapeutic_modality: SURGERY
treatment_term:
preferred_term: Definitive Surgical Resection
term:
id: NCIT:C154430
label: Definitive Surgical Resection
evidence:
- reference: PMID:29939543
reference_title: Rhabdomyosarcoma.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
treatment is multimodal, combining surgery, when feasible, to
completely remove the primary tumor and chemotherapy to control
disease spread
explanation: >-
Supports complete surgical resection as a core component of RMS
multimodality therapy whenever feasible.
- name: Radiation Therapy
description: >-
Radiation is used for local control in patients with residual disease
or unfavorable features. May be omitted in selected low-risk patients.
therapeutic_modality: RADIOTHERAPY
treatment_term:
preferred_term: Radiation Therapy
term:
id: NCIT:C15313
label: Radiation Therapy
evidence:
- reference: PMID:29939543
reference_title: Rhabdomyosarcoma.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Radiotherapy is used to treat most high and intermediate-risk patients
as well.
explanation: >-
Directly supports use of radiation therapy in RMS risk-stratified
management, especially for high- and intermediate-risk patients.
disease_term:
preferred_term: embryonal rhabdomyosarcoma
term:
id: MONDO:0009993
label: embryonal rhabdomyosarcoma
classifications:
icdo_morphology:
classification_value: Sarcoma
harrisons_chapter:
- classification_value: ONCOLOGY_HEMATOLOGY
references:
- reference: PMID:29939543
title: Rhabdomyosarcoma.
tags:
- StatPearls
findings: []
- reference: DOI:10.1002/pbc.30556
title: "Children's Oncology Group's 2023 blueprint for research: Soft tissue sarcomas"
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: In the United States, approximately 850–900 children and adolescents each year are diagnosed with soft tissue sarcomas (STS).
supporting_text: In the United States, approximately 850–900 children and adolescents each year are diagnosed with soft tissue sarcomas (STS).
evidence:
- reference: DOI:10.1002/pbc.30556
reference_title: "Children's Oncology Group's 2023 blueprint for research: Soft tissue sarcomas"
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: In the United States, approximately 850–900 children and adolescents each year are diagnosed with soft tissue sarcomas (STS).
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.1007/s00247-023-05596-8
title: 'Imaging in rhabdomyosarcoma: a patient journey'
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Rhabdomyosarcoma, although rare, is the most frequent soft tissue sarcoma in children and adolescents.
supporting_text: Rhabdomyosarcoma, although rare, is the most frequent soft tissue sarcoma in children and adolescents.
evidence:
- reference: DOI:10.1007/s00247-023-05596-8
reference_title: 'Imaging in rhabdomyosarcoma: a patient journey'
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Rhabdomyosarcoma, although rare, is the most frequent soft tissue sarcoma in children and adolescents.
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.1200/jco.22.00409
title: "Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group"
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Novel biomarkers are needed to differentiate outcomes in intermediate-risk rhabdomyosarcoma (IR RMS).
supporting_text: Novel biomarkers are needed to differentiate outcomes in intermediate-risk rhabdomyosarcoma (IR RMS).
evidence:
- reference: DOI:10.1200/jco.22.00409
reference_title: "Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group"
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Novel biomarkers are needed to differentiate outcomes in intermediate-risk rhabdomyosarcoma (IR RMS).
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.20944/preprints202309.0846.v1
title: 'Rhabdomyosarcoma: Current Therapy, Challenges, and Future Approaches to Treatment Strategies'
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Rhabdomyosarcoma is a rare cancer arising in skeletal muscle that typically impacts children and young adults.
supporting_text: Rhabdomyosarcoma is a rare cancer arising in skeletal muscle that typically impacts children and young adults.
evidence:
- reference: DOI:10.20944/preprints202309.0846.v1
reference_title: 'Rhabdomyosarcoma: Current Therapy, Challenges, and Future Approaches to Treatment Strategies'
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Rhabdomyosarcoma is a rare cancer arising in skeletal muscle that typically impacts children and young adults.
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.3389/fonc.2025.1546607
title: Clinicopathological analysis of 13 patients with embryonal rhabdomyosarcoma of the female reproductive system in the Chinese population
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Clinicopathological analysis of 13 patients with embryonal rhabdomyosarcoma of the female reproductive system in the Chinese population
supporting_text: Examine clinicopathological traits and differential diagnosis of ERMS in female reproductive system.MethodsRetrospectively assess 13 patients’ data (Jan 2018 - Jun 2024, West China Second Univsity Hospital), covering clinical, histological, immunohistochemical aspects and literature review.ResultsAge 2 months - 67 years (median 21), sites in cervix (5), ovaries (3), uterus (2).
evidence:
- reference: DOI:10.3389/fonc.2025.1546607
reference_title: Clinicopathological analysis of 13 patients with embryonal rhabdomyosarcoma of the female reproductive system in the Chinese population
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Examine clinicopathological traits and differential diagnosis of ERMS in female reproductive system.MethodsRetrospectively assess 13 patients’ data (Jan 2018 - Jun 2024, West China Second Univsity Hospital), covering clinical, histological, immunohistochemical aspects and literature review.ResultsAge 2 months - 67 years (median 21), sites in cervix (5), ovaries (3), uterus (2).
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.3390/cancers17193100
title: Childhood, Adolescent and Young Adult Poor-Prognosis Rhabdomyosarcoma
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and young people.
supporting_text: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and young people.
evidence:
- reference: DOI:10.3390/cancers17193100
reference_title: Childhood, Adolescent and Young Adult Poor-Prognosis Rhabdomyosarcoma
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and young people.
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.3390/cancers18040690
title: The Development of Novel Treatment Strategies for Rhabdomyosarcoma
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Rhabdomyosarcoma is a small round-cell soft tissue tumor that occurs mainly in pediatric and adolescent/young adult (AYA) patients but also rarely in adults.
supporting_text: Rhabdomyosarcoma is a small round-cell soft tissue tumor that occurs mainly in pediatric and adolescent/young adult (AYA) patients but also rarely in adults.
evidence:
- reference: DOI:10.3390/cancers18040690
reference_title: The Development of Novel Treatment Strategies for Rhabdomyosarcoma
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Rhabdomyosarcoma is a small round-cell soft tissue tumor that occurs mainly in pediatric and adolescent/young adult (AYA) patients but also rarely in adults.
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
- reference: DOI:10.3390/cancers18060888
title: Biological Advances and Current Challenges for Pediatric Rhabdomyosarcoma
found_in:
- Embryonal_Rhabdomyosarcoma-deep-research-falcon.md
findings:
- statement: Despite comprehensive and multi-modal therapy, outcomes for children and adolescents with rhabdomyosarcoma (RMS) have plateaued over the past four decades.
supporting_text: Despite comprehensive and multi-modal therapy, outcomes for children and adolescents with rhabdomyosarcoma (RMS) have plateaued over the past four decades.
evidence:
- reference: DOI:10.3390/cancers18060888
reference_title: Biological Advances and Current Challenges for Pediatric Rhabdomyosarcoma
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Despite comprehensive and multi-modal therapy, outcomes for children and adolescents with rhabdomyosarcoma (RMS) have plateaued over the past four decades.
explanation: Deep research cited this publication as relevant literature for Embryonal Rhabdomyosarcoma.
datasets:
- accession: ega:EGAS00001005502
title: Embryonal Rhabdomyosarcoma sequencing data
description: This study shares DNA and RNA sequencing data from embryonal rhadbomyosarcoma patients
organism:
preferred_term: human
term:
id: NCBITaxon:9606
label: Homo sapiens
notes: 'European Genome-phenome Archive study, matched because the disease is named in the study''s own title ("Embryonal Rhabdomyosarcoma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.'
- accession: ega:EGAS00001006946
title: Genomic Analysis of a Metastatic Fusion-negative Embryonal Rhabdomyosarcoma
organism:
preferred_term: human
term:
id: NCBITaxon:9606
label: Homo sapiens
notes: 'European Genome-phenome Archive study, matched because the disease is named in the study''s own title ("Embryonal Rhabdomyosarcoma"); description-level mentions were not accepted. EGA study_type: Cancer Genomics. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.'
Deep research results are used as seeds for research; they do not undergo the same validation as the main records and may contain errors. How we use deep research.
Embryonal rhabdomyosarcoma (ERMS) is the most common pediatric rhabdomyosarcoma subtype and largely overlaps with FOXO1 fusion–negative rhabdomyosarcoma (FN‑RMS) in modern molecular classification, which is increasingly used for risk stratification and treatment selection. Clinically, RMS frequently presents as a mass in the head/neck, genitourinary tract, or extremities. ERMS/FN‑RMS is characterized by recurrent chromosomal gains, 11p15 allelic loss/LOH (IGF2 region), and frequent RAS‑pathway alterations; poor‑prognosis subsets include TP53 and MYOD1 (L122R) altered tumors. Standard-of-care remains multimodal therapy (chemotherapy plus surgery and/or radiotherapy), while contemporary trials incorporate molecular risk markers and emerging biomarkers such as circulating tumor DNA (ctDNA). (vries2023imaginginrhabdomyosarcoma pages 1-3, oberoi2023childrensoncologygroups pages 1-3, oberoi2023childrensoncologygroups pages 3-5)
A compact, evidence-backed fact table is provided below.
| Domain | Item | Summary | Quantitative detail | Citation-year | Primary citation context id |
|---|---|---|---|---|---|
| Identifier/classification | Disease name | Embryonal rhabdomyosarcoma (ERMS) is the embryonal subtype of rhabdomyosarcoma and is a fusion-negative RMS category in most cases | ERMS constitutes 70–80% of RMS in one clinicopathologic review; another review lists ERMS as 57% of RMS | 2025; 2025 | pqac-00000006 |
| Identifier/classification | Synonyms | ERMS; embryonal RMS; fusion-negative RMS (FN-RMS) often used as molecular proxy because most ERMS are FOXO1 fusion-negative | Not quantified | 2025; 2025 | pqac-00000003 |
| Identifier/classification | WHO classification | WHO/2020-era classification lists four RMS subtypes: embryonal, alveolar, pleomorphic, spindle cell/sclerosing | 4 major subtypes | 2025; 2026 | pqac-00000008 |
| Identifier/classification | MeSH / ICD / MONDO / Orphanet | Specific MeSH, ICD-10/11, MONDO, and Orphanet identifiers were not provided in the retrieved evidence; Open Targets lists disease term “embryonal rhabdomyosarcoma” as EFO_0000437 | Not available in provided evidence | 2023–2025 evidence set | pqac-00000000 |
| Epidemiology | Pediatric cancer burden | RMS is the most common pediatric soft tissue sarcoma and accounts for about 3% of pediatric cancers | ~3% of pediatric cancers | 2023 | pqac-00000010 |
| Epidemiology | Annual U.S. cases | Approximate number of U.S. pediatric RMS diagnoses per year | ~350 cases/year | 2023 | pqac-00000010 |
| Epidemiology | Incidence | Pediatric RMS annual incidence | 4.6 per million children (COG blueprint); ~4 per million age 0–19 in European registry summary | 2023; 2023 | pqac-00000010 |
| Epidemiology | Age/sex distribution | RMS median age at diagnosis is early childhood and males are more often affected | Median age 5 years; 72–81% diagnosed before age 10; male:female ratio ~1.4 | 2023 | pqac-00000001 |
| Prognosis | Overall localized vs metastatic RMS | Outcomes vary strongly by risk group and metastatic status | 5-year OS ~80% for localized disease; ~35% for metastatic disease | 2023 | pqac-00000001 |
| Prognosis | COG low/intermediate/high risk | Long-term survival ranges by risk group in COG framework | ~90% / 50–70% / ~20% 5-year survival for low / intermediate / high risk STS/RMS frameworks | 2023 | pqac-00000010 |
| Prognosis | Favorable fusion-negative groups | Excellent survival for selected favorable FN-RMS groups | 5-year EFS/OS 92%/99% for FN Stage 1, Clinical Group I; 87%/97% for FN Stage 1 CG II / Stage 2 CG I-II / orbit CG III | 2023 | pqac-00000010 |
| Prognosis | ctDNA prognostic value in FN-RMS | Detectable baseline ctDNA identifies worse-outcome intermediate-risk FN-RMS | ctDNA detectable in 13/75 FN-RMS sera (17%); EFS 33.3% vs 68.9%, OS 33.3% vs 83.2%, P=.0028 and P<.0001 | 2023 | pqac-00000014 |
| Prognosis | Poor-risk biomarkers | MYOD1 and TP53 mutations worsen prognosis in FN-RMS | MYOD1 L122R associated survival 0–30%; TP53 mutations in ~13% FN-RMS and worse outcomes | 2023 | pqac-00000012 |
| Molecular feature | FOXO1 status | Fusion status has replaced histologic subtype in risk stratification; FOXO1 fusion-negative disease has better prognosis than fusion-positive disease | Qualitative prognostic effect; no single percentage for ERMS itself | 2023 | pqac-00000010 |
| Molecular feature | 11p15 loss | ERMS frequently shows 11p15 loss of heterozygosity involving IGF2 region | ~80% have 11p15 LOH | 2023 | pqac-00000007 |
| Molecular feature | RAS-pathway mutations | Fusion-negative/embryonal RMS is characterized by recurrent RAS-pathway alterations | Frequent, but no single pooled percentage given in retrieved evidence | 2023 | pqac-00000012 |
| Molecular feature | TP53 | TP53 is a recurrent poor-risk alteration in FN-RMS/ERMS | ~13% of FN-RMS | 2023 | pqac-00000012 |
| Molecular feature | MYOD1 | MYOD1 L122R marks biologically aggressive RMS subset and is integrated into modern risk frameworks | Survival 0–30% in MYOD1-mutant disease | 2023 | pqac-00000012 |
| Molecular feature | DICER1 in gynecologic ERMS | DICER1 alterations are enriched in cervical and uterine ERMS and may aid diagnosis | Almost all cervical ERMS and nearly 67% of uterine corpus ERMS carry DICER1 mutations; 4/5 tested gynecologic ERMS in one cohort were DICER1-mutant | 2025 | pqac-00000006 |
| Molecular feature | Chromosomal/copy-number pattern | FN-RMS/ERMS shows whole-chromosome gains; one transcriptomic/genomic analysis highlighted chromosome 8 cytoband amplification/gain in FN-RMS | chr8-related amplification highlighted; exact ERMS frequency not provided in compact evidence set | 2023 | pqac-00000012 |
| Diagnostics | Histology/IHC | ERMS diagnosis relies on morphology plus skeletal muscle markers | Common markers: desmin, myogenin, MyoD1; in one gynecologic ERMS series Myogenin 11/13, Desmin 13/13, MyoD1 12/13, Myoglobin 5/9 | 2025 | pqac-00000006 |
Table: This table condenses the most actionable evidence from the retrieved sources for embryonal rhabdomyosarcoma, covering classification, epidemiology, prognosis, and molecular features. It is useful as a compact reference for knowledge-base population using only facts directly supported by the available context IDs.
Rhabdomyosarcoma (RMS) is described as the most frequent pediatric soft tissue sarcoma, with major subtypes including embryonal and alveolar; ERMS is typically fusion-negative and is described as being driven by oncogenic driver mutations such as RAS and TP53 in the imaging-focused review by de Vries et al. (Pediatric Radiology, 2023‑02, URL: https://doi.org/10.1007/s00247-023-05596-8). (vries2023imaginginrhabdomyosarcoma pages 1-3)
Not found in the retrieved evidence: ICD‑10/ICD‑11, MeSH identifier, Orphanet (ORPHA) code, MONDO ID.
This report is derived from aggregated disease-level resources (COG blueprint review; imaging guideline review; multi-institutional clinical study; trial registry) and selected clinicopathologic series. (vries2023imaginginrhabdomyosarcoma pages 1-3, oberoi2023childrensoncologygroups pages 1-3, abbou2023circulatingtumordna pages 1-2)
ERMS/FN‑RMS is characterized by: - Chromosomal alterations: Whole-chromosome gains and 11p15.5 allelic loss are described as characteristic genomic features in the COG blueprint review. (oberoi2023childrensoncologygroups pages 3-5) - 11p15 loss of heterozygosity (LOH): A 2023 review reports that ~80% of ERMS have LOH at 11p15 involving the IGF‑2/IGF2 region. (zarrabi2023rhabdomyosarcomacurrenttherapy pages 3-5) - RAS pathway alterations: The COG blueprint describes frequent RAS‑pathway and point mutations (e.g., NRAS, KRAS, HRAS) in fusion-negative disease. (oberoi2023childrensoncologygroups pages 3-5)
Multiple cancer predisposition syndromes are reported as increasing RMS risk in a 2023 imaging guideline review, including: - Neurofibromatosis type 1 (NF1) - Li–Fraumeni syndrome (TP53 germline) - DICER1 syndrome - Noonan syndrome - Beckwith–Wiedemann syndrome - Costello syndrome (vries2023imaginginrhabdomyosarcoma pages 1-3)
No specific environmental or lifestyle risk factors were identified in the retrieved evidence.
No protective genetic or environmental factors were identified in the retrieved evidence.
No ERMS-specific gene–environment interaction evidence was identified in the retrieved set.
RMS “can present as a mass at nearly any site in the body,” with most common presentations in head and neck, genitourinary tract, and extremities. (vries2023imaginginrhabdomyosarcoma pages 1-3)
European registry–summarized epidemiology in the imaging review reports: - Median age at diagnosis: ~5 years - Proportion <10 years: ~72–81% - Male:female ratio: ~1.4 (95% CI 1.2–1.6) (vries2023imaginginrhabdomyosarcoma pages 1-3)
Evidence in the retrieved set is not granular enough to assign frequencies per phenotype; the following HPO terms are consistent with common presentations noted (mass lesion by site): - Mass of head and neck (e.g., HP:0000235 Abnormality of head or neck [broad parent]; site-specific “mass” terms may be used in implementation) - Pelvic mass (HP:0002681) / Abdominal mass (HP:0003270) for genitourinary presentations - Soft tissue mass (HP:0030832 [soft-tissue abnormality/mass terms])
Note: HPO IDs above are provided as ontology suggestions; confirm exact term mapping during curation.
From the COG blueprint review, fusion‑negative disease is described as having frequent point mutations including NRAS, KRAS, HRAS, TP53, MYOD1, PIK3CA, FGFR4 and characteristic chromosomal events including 11p15.5 allelic loss. (oberoi2023childrensoncologygroups pages 3-5)
A clinicopathological series of female reproductive system ERMS highlights enrichment for DICER1 alterations, stating: “Almost all cervical ERMS and nearly 67% of uterine corpus ERMS carry DICER1 mutations,” and in their cohort 4/5 tested cases had DICER1 mutations. (Frontiers in Oncology, 2025‑03, URL: https://doi.org/10.3389/fonc.2025.1546607) (bai2025clinicopathologicalanalysisof pages 1-2)
The retrieved evidence set did not provide ERMS-specific quantitative epigenetic signatures; however, the COG blueprint emphasizes that molecular profiling (including fusion status and specific mutations) is increasingly incorporated into risk stratification and prospective trials. (oberoi2023childrensoncologygroups pages 1-3)
Based on evidence-supported biology (RAS pathway activation; differentiation blockade implied by MYOD1 axis and RMS myogenic markers): - GO (Biological Process) suggestions: - Ras protein signal transduction (e.g., GO:0007265) - Regulation of cell proliferation (GO:0042127) - Myoblast differentiation / skeletal muscle cell differentiation (myogenic program dysregulation; use appropriate child terms during curation) - CL (Cell Ontology) suggestions: - Skeletal muscle cell / myoblast lineages (tumor shows skeletal muscle differentiation markers)
No ERMS-specific environmental, lifestyle, or infectious causal contributors were identified in the retrieved evidence.
In ERMS/FN‑RMS, recurrent genomic alterations include 11p15.5 allelic loss/LOH (IGF2 locus region) and frequent RAS pathway mutations (NRAS/KRAS/HRAS), with subsets harboring TP53 or MYOD1 alterations that confer poor prognosis. (zarrabi2023rhabdomyosarcomacurrenttherapy pages 3-5, oberoi2023childrensoncologygroups pages 3-5)
A mechanistic chain supported by the retrieved evidence: 1. Genetic alterations (e.g., 11p15 LOH; RAS-pathway mutations; TP53/MYOD1 in poor-risk subsets) (zarrabi2023rhabdomyosarcomacurrenttherapy pages 3-5, oberoi2023childrensoncologygroups pages 3-5) 2. Promote oncogenic signaling and tumor growth in mesenchymal lineage cells with skeletal muscle differentiation, producing a soft-tissue mass presentation at diverse sites (head/neck, GU tract, extremity) (vries2023imaginginrhabdomyosarcoma pages 1-3) 3. Disease aggressiveness and treatment resistance are increased in molecularly defined high-risk subsets (TP53, MYOD1), reflected in poorer survival outcomes. (oberoi2023childrensoncologygroups pages 3-5)
Most common presentations: head and neck, genitourinary tract, extremities. (vries2023imaginginrhabdomyosarcoma pages 1-3)
Most ERMS appears sporadic; however, multiple germline cancer predisposition syndromes increase risk (NF1, Li–Fraumeni/TP53, DICER1, Noonan, Beckwith–Wiedemann, Costello). (vries2023imaginginrhabdomyosarcoma pages 1-3)
A 2023 RMS review notes use of IHC muscle markers including alpha-actin, MyoD1, myogenin, and desmin to distinguish RMS from other small round blue cell tumors. (zarrabi2023rhabdomyosarcomacurrenttherapy pages 3-5)
In a 13‑patient gynecologic ERMS series, IHC positivity rates were: - Desmin: 13/13 - MyoD1: 12/13 - Myogenin: 11/13 - Myoglobin: 5/9 (bai2025clinicopathologicalanalysisof pages 1-2)
COG emphasizes fusion status as central: FOXO1 fusion status has replaced histologic subtype in risk stratification, with FOXO1 fusion-positive conferring worse prognosis than fusion-negative. (oberoi2023childrensoncologygroups pages 1-3)
The imaging guideline review highlights multidisciplinary management and notes European collaborative imaging guidance (EpSSG/CWS/ESPR collaboration) spanning clinical suspicion, biopsy, staging, response assessment, and follow-up. (vries2023imaginginrhabdomyosarcoma pages 1-3)
In intermediate-risk RMS, baseline ctDNA detection is feasible and prognostic. - Cohort: 124 intermediate-risk RMS patients (75 FN‑RMS; 49 FP‑RMS) - FN‑RMS ctDNA detection at diagnosis: 13/75 (17%) - FN‑RMS outcomes with detectable ctDNA vs not detectable: - EFS: 33.3% vs 68.9% (P = .0028) - OS: 33.3% vs 83.2% (P < .0001) - Similar adverse associations were reported for FP‑RMS. (Journal of Clinical Oncology, 2023‑05, URL: https://doi.org/10.1200/JCO.22.00409) (abbou2023circulatingtumordna pages 1-2)
Additional quantitative details from the same study (alternate excerpt) include: CNAs in tumors 71%, translocations in tumors 93%, and overall ctDNA detection 57% using combined approaches. (abbou2023circulatingtumordna pages 6-7)
In the imaging-focused review, 5-year overall survival is summarized as: - Localized disease: ~80% - Metastatic disease: ~35% - Broad risk-group range: ~50.6% (very high-risk) to 100% (low-risk) (vries2023imaginginrhabdomyosarcoma pages 1-3)
COG blueprint examples for favorable fusion-negative groups include: - FN Stage 1, Clinical Group I: 5‑year EFS/OS 92% / 99% - Other favorable groups: EFS/OS 87% / 97% (oberoi2023childrensoncologygroups pages 1-3)
Poorer prognosis is associated with FOXO1 fusion positivity, and within FN‑RMS, MYOD1 and TP53 mutations are noted as adverse factors. (oberoi2023childrensoncologygroups pages 1-3, oberoi2023childrensoncologygroups pages 3-5)
The imaging review describes standard management as multimodal: systemic chemotherapy plus local therapy (surgery and/or radiotherapy). (vries2023imaginginrhabdomyosarcoma pages 1-3)
COG blueprint specifies typical chemotherapy backbones: - VA (vincristine + dactinomycin) ± cyclophosphamide (VAC) - VAC/VI (VAC with irinotecan-containing components) (oberoi2023childrensoncologygroups pages 1-3)
COG-reported comparative outcomes in intermediate-risk trials: - ARST0531: 4-year EFS 63% vs 59% and OS 73% vs 72% for VAC vs VAC/VI strategies (with different cumulative cyclophosphamide exposure). (oberoi2023childrensoncologygroups pages 1-3)
COG notes that patients meeting very-low/low-risk clinical criteria but with TP53 or MYOD1 mutations are treated with 42 weeks VAC (cumulative cyclophosphamide 16.6 g/m²) and not considered very-low/low risk. (oberoi2023childrensoncologygroups pages 19-20)
No primary prevention strategies specific to ERMS were identified in the retrieved evidence. Secondary prevention in practice centers on timely recognition, imaging workup, and standardized staging/risk stratification within multidisciplinary pediatric oncology pathways. (vries2023imaginginrhabdomyosarcoma pages 1-3)
The retrieved evidence did not provide specific naturally occurring veterinary ERMS epidemiology.
A 2023 RMS review notes that in vivo mouse and zebrafish models are used to screen future therapeutic approaches and study mechanisms. (zarrabi2023rhabdomyosarcomacurrenttherapy pages 3-5)
A 2026 review emphasizes that advances in animal models and tissue acquisition have improved understanding of RMS biology, though the provided excerpt does not enumerate specific engineered ERMS models. (hebron2026biologicaladvancesand pages 22-23)
The COG rhabdomyosarcoma prognostic group table (risk stratification schema with associated long-term EFS ranges) is provided in the retrieved cropped table image. (oberoi2023childrensoncologygroups media 44b370af)
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