🏷

Classifications

Harrison's Chapter

ICD-O Morphology

🔗

Mappings

MONDO

MONDO:0016718 choroid plexus carcinoma

Primary MONDO disease identifier for this CPC entry.

◆

Subtypes

4

age group

Childhood Choroid Plexus Carcinoma MONDO:0002685

Most CPC cases occur in infants and very young children, with peak presentation under 2 to 3 years of age.

Show evidence (1 reference)

PMID:35592824 SUPPORT Other

"Choroid Plexus Carcinomas (CPC) are rare malignant brain neoplasms of choroid plexus epithelium, with a tendency to occur in infants and children, especially those who are under two years of age."

Supports childhood predominance, especially infancy.

molecular

TP53-Altered Choroid Plexus Carcinoma

CPC with germline or somatic TP53 alteration. This facet overlaps strongly with Li-Fraumeni-associated disease and marks a high-risk clinical course.

Show evidence (1 reference)

PMID:33506206 SUPPORT Human Clinical

"Patients with TP53-wild-type tumors had a 5-year PFS of 100% as compared to 28.6 ± 17.1% for TP53-mutant tumors (P = .012)."

Supports TP53-altered CPC as a clinically meaningful high-risk molecular facet.

TP53-Wildtype Choroid Plexus Carcinoma

CPC lacking detectable TP53 mutation in current cohorts. This facet has substantially better progression-free survival than TP53-altered disease in available pediatric trial data.

Show evidence (1 reference)

PMID:33506206 SUPPORT Human Clinical

"Patients with TP53-wild-type tumors had a 5-year PFS of 100% as compared to 28.6 ± 17.1% for TP53-mutant tumors (P = .012)."

Supports TP53-wildtype CPC as a more favorable molecular facet relative to TP53-mutant disease.

predisposition context

Li-Fraumeni-Associated Choroid Plexus Carcinoma MONDO:0018875

CPC arising in the setting of germline TP53-associated Li-Fraumeni syndrome. This context is clinically important because it influences surveillance and can shift the risk-benefit balance away from radiotherapy.

Show evidence (1 reference)

PMID:41198335 SUPPORT Other

"A significant proportion of CPCs are driven by either somatic or germline TP53 mutations (Li-Fraumeni syndrome); however, other molecular drivers of CPT tumorigenesis remain poorly understood."

Supports Li-Fraumeni syndrome as a clinically important predisposition context for CPC.

⚙

Pathophysiology

5

TP53 Tumor Suppressor Loss

TP53 alteration is the dominant recurrent genetic lesion in CPC. Germline or somatic loss of TP53 function removes a major checkpoint barrier to malignant transformation of choroid plexus epithelial cells.

choroid plexus epithelial cell link

cell cycle checkpoint signaling link ↓ DECREASED apoptotic process link ↓ DECREASED

choroid plexus link

Downstream

Chromosomal Instability Loss of TP53-associated genome surveillance permits accumulation of chromosome-scale alterations

Show evidence (1 reference)

PMID:36534940 SUPPORT Human Clinical

"All studied CPCs had smooth mutational profiles with the only recurrent event being TP53 variants, either germline or somatic, encountered in 13 cases."

Supports recurrent germline or somatic TP53 alteration as the dominant molecular lesion in CPC.

Chromosomal Instability

CPC genomes are dominated by broad copy-number change rather than numerous recurrent point mutations. Whole-chromosome gains and losses, multiple monosomies, and in a subset complex rearrangements or chromothripsis, are characteristic.

chromosome organization link ⚠ ABNORMAL

Downstream

Wnt/Beta-Catenin Pathway Activation Genome-scale alterations are linked to Wnt pathway activation in CPC models and human tumors

Cell Cycle Program Activation Copy-number imbalance supports a highly proliferative transcriptional state

Show evidence (2 references)

PMID:36534940 SUPPORT Human Clinical

"Unbalanced whole-chromosome aberrations, notably multiple monosomies, were highly typical."

Supports pervasive chromosome-scale copy-number imbalance as a core CPC mechanism.

PMID:36534940 SUPPORT Human Clinical

"In 7 tumors, chromosome losses were combined with complex genomic rearrangements: segmental gains and losses or signs of chromothripsis."

Supports a high-instability CPC subset with chromothripsis-like complexity.

Wnt/Beta-Catenin Pathway Activation

Wnt/beta-catenin signaling is activated in human choroid plexus tumors and functionally required for survival of CPT-derived cells. Experimental pathway activation is sufficient to drive oncogenic behavior in choroid plexus models.

choroid plexus epithelial cell link

canonical Wnt signaling pathway link ↑ INCREASED

Downstream

Impaired Choroid Plexus Epithelial Differentiation Wnt hyperactivation reduces mature epithelial differentiation and favors tumorigenic state

Show evidence (2 references)

PMID:39215664 SUPPORT Human Clinical

"We discovered that Wnt/β-catenin signaling is activated in human CPTs, likely as a consequence of large-scale chromosomal instability events of the CPT genomes."

Supports Wnt/beta-catenin activation in human choroid plexus tumors and links it to chromosomal instability.

PMID:39215664 SUPPORT In Vitro

"We demonstrated that CPT-derived cells depend on autocrine Wnt/β-catenin signaling for survival."

Functional cell-based evidence that CPC-related cells depend on autocrine Wnt signaling.

Impaired Choroid Plexus Epithelial Differentiation

CPC cells lose features of mature choroid plexus epithelium. Experimental Wnt hyperactivation reduces differentiation of mature epithelial cells and supports oncogenic transformation of choroid plexus organoids.

choroid plexus epithelial cell link

cell differentiation link ↓ DECREASED

Downstream

Cell Cycle Program Activation Dedifferentiated epithelial cells adopt a more proliferative tumor phenotype

Show evidence (1 reference)

PMID:39215664 SUPPORT In Vitro

"Increased activation of the Wnt/β-catenin pathway in ChP organoids, through treatment with a potent GSK3β inhibitor, reduced the differentiation of mature ChP epithelial cells."

Supports differentiation failure as a direct downstream consequence of Wnt hyperactivation in choroid plexus models.

Cell Cycle Program Activation

Compared with papilloma, CPC shows transcriptional upregulation of cell-cycle genes and a more invasive progression-associated program. This state supports rapid growth and dissemination-prone behavior.

choroid plexus epithelial cell link

regulation of cell cycle process link ↑ INCREASED cell population proliferation link ↑ INCREASED

Show evidence (1 reference)

PMID:38867333 SUPPORT Human Clinical

"Differential gene expression analysis uncovered a significant overexpression of genes related to cell cycle regulation and epithelial-mesenchymal transition pathways in CPC compared to CPP."

Supports activation of proliferative cell-cycle programs in CPC relative to papilloma.

✶

Histopathology

1

WHO Grade III Choroid Plexus Carcinoma

CPC is the malignant, WHO grade III member of the choroid plexus tumor family.

Show evidence (1 reference)

PMID:33717766 SUPPORT Other

"Of the CPT subtypes, choroid plexus carcinomas (CPC) are highly aggressive and malignant and of World Health Organization (WHO) Grade III."

Supports the malignant WHO grade III histopathologic designation of CPC.

⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.

●

Phenotypes

4

Digestive 1

Vomiting Vomiting (HP:0002013)

Show evidence (1 reference)

PMID:35592824 SUPPORT Other

"The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."

Supports vomiting as part of the common CPC presenting symptom complex.

Nervous System 3

Hydrocephalus Hydrocephalus (HP:0000238)

Show evidence (1 reference)

PMID:34754533 SUPPORT Human Clinical

"Hydrocephalus is the most common presentation of choroid plexus tumors; it is thought to be caused either by mass effect obstructing the cerebrospinal fluid pathways or secretory properties of the tumor."

Supports hydrocephalus as a common presenting phenotype and provides a mechanistic explanation relevant to CPC.

Headache Headache (HP:0002315)

Show evidence (1 reference)

PMID:35592824 SUPPORT Other

"The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."

Supports headache as part of the common CPC presenting symptom complex.

Seizure Seizure (HP:0001250)

Show evidence (1 reference)

PMID:35592824 SUPPORT Other

"The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."

Supports seizures as part of the presenting CPC phenotype spectrum.

🧬

Genetic Associations

2

TP53 (Germline and Somatic Tumor Suppressor Loss)

Show evidence (2 references)

PMID:36534940 SUPPORT Human Clinical

"All studied CPCs had smooth mutational profiles with the only recurrent event being TP53 variants, either germline or somatic, encountered in 13 cases."

Supports TP53 as the dominant recurrently altered gene in CPC.

PMID:33506206 SUPPORT Human Clinical

"TP53-mutational status was the only significant prognostic variable and should form the basis of risk-stratification in future trials."

Supports the strong prognostic and trial-stratification significance of TP53 status in CPC.

EPHA7 (Somatic Mutation)

Show evidence (1 reference)

PMID:38867333 SUPPORT Human Clinical

"Mutually exclusive TP53 and EPHA7 point mutations, coupled with the amplification of chromosome 1, were exclusively identified in CPC."

Supports EPHA7 as a CPC-enriched somatic mutation in pediatric multiomics data.

💊

Treatments

4

Gross Total Resection

Action: Gross Total Resection NCIT:C131672

Maximal safe gross total resection is the core local therapy for CPC and the strongest surgical goal when anatomy and bleeding risk permit.

Show evidence (2 references)

PMID:41736349 SUPPORT Other

"Complete surgical resection offers the best chance of long-term survival, but this is often difficult due to excessive intraoperative bleeding."

Supports gross total resection as the key surgical objective in CPC.

PMID:38339361 SUPPORT Human Clinical

"Meanwhile, in patients with CPC, gross total resection (GTR) was associated with significantly better OS than subtotal resection (STR) only."

Population-level evidence that GTR improves overall survival relative to STR alone in CPC.

CarbEV Chemotherapy

Action: chemotherapy MAXO:0000647

Agent: carboplatin ↗ etoposide ↗ vincristine ↗

Carboplatin-etoposide-vincristine (CarbEV/CEV) chemotherapy is an established CPC backbone and was superior to CycEV in the randomized CPC arm of CPT-SIOP-2000.

Show evidence (1 reference)

PMID:34997889 SUPPORT Human Clinical

"For randomized CPC, the 5/10 year progression free survival (PFS) of patients on CarbEV (n = 20) were 62%/47%, respectively, compared to 27%/18%, on CycEV (n = 15), (intention-to-treat, HR 2.6, p = 0.032)."

Supports the efficacy and superiority of the carboplatin-etoposide-vincristine backbone in CPC.

High-Dose Methotrexate-Containing Chemotherapy

Action: chemotherapy MAXO:0000647

Agent: methotrexate ↗

High-dose methotrexate-containing induction chemotherapy can produce durable progression-free survival in young children with CPC and is used in non-myeloablative infant-focused protocols.

Show evidence (1 reference)

PMID:33506206 SUPPORT Human Clinical

"Non-myeloablative high-dose methotrexate-containing therapy with maximal surgical resection resulted in long-term PFS in more than half of patients with CPC."

Supports high-dose methotrexate-containing chemotherapy as an effective pediatric CPC regimen.

Craniospinal Irradiation

Action: Craniospinal Irradiation NCIT:C116437

Radiotherapy is used in a risk-adapted way in older children with CPC. Craniospinal fields are reserved for metastatic or non-responsive disease in protocolized treatment.

Show evidence (1 reference)

PMID:34997889 SUPPORT Human Clinical

"Patients older than three years were recommended to receive irradiation: focal fields for non-metastatic CPC, incompletely resected atypical choroid plexus papilloma (APP) or metastatic choroid plexus papilloma (CPP); craniospinal fields for metastatic CPC/APP and non-responsive CPC."

Supports protocolized use of craniospinal irradiation for metastatic or non-responsive CPC.

🔬

Biochemical Markers

1

DNA Methylation Classifier Assignment

Show evidence (2 references)

PMID:38962753 SUPPORT Human Clinical

"Results indicated that methylation profiling may serve as a valuable tool in the clinical decision-making process for patients with CPTs, providing additional prognostic information compared to WHO histologic grade alone."

Supports DNA methylation profiling as a clinically useful diagnostic and prognostic biomarker strategy for CPC.

PMID:38962753 SUPPORT Human Clinical

"There was good correlation (11/12, 92%) between methylation class and WHO histologic grade for choroid plexus carcinomas (CPC);"

Supports strong but not perfect alignment between histologic CPC and methylation-class CPC.

🔀

Differential Diagnoses

2

Conditions with similar clinical presentations that must be differentiated from Choroid Plexus Carcinoma:

Choroid plexus papilloma Not Yet Curated MONDO:0009837

Overlapping Features CPP is the closest pathologic differential and is distinguished by less aggressive histology and distinct molecular features.

Show evidence (1 reference)

PMID:38867333 SUPPORT Human Clinical

"The aim of this study was to investigate the genomic and epigenomic characteristics of CPT and identify the differences between choroid plexus papilloma (CPP) and choroid plexus carcinoma (CPC)."

This directly supports CPP as a key differential diagnosis.

Ependymoma Not Yet Curated MONDO:0016698

Overlapping Features Papillary intraventricular ependymoma can mimic CPC radiologically and pathologically and must be excluded.

Show evidence (1 reference)

PMID:1185253 SUPPORT Human Clinical

"Differentiation of this neoplasm from papillary ependymomas, choroid plexus papillomas, secondary carcinomas, and "collision tumors" is discussed."

This directly supports ependymoma as a CPC differential.

📊

Related Datasets

1

Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis. PMID:36534940

Pediatric clinical-molecular cohort integrating mutational, chromosomal, transcriptomic, and outcome data across CPC cases.

Homo sapiens n=25

Conditions: pediatric choroid plexus carcinoma TP53-altered CPC

PMID:36534940

Show evidence (1 reference)

PMID:36534940 SUPPORT Human Clinical

"This retrospective study enrolled 25 pediatric patients with CPC"

This supports the study as a reusable pediatric CPC cohort dataset.

{ }

Source YAML

click to show

name: Choroid Plexus Carcinoma
creation_date: '2026-04-13T05:38:05Z'
updated_date: '2026-04-20T07:01:17Z'
description: >-
  Choroid plexus carcinoma (CPC) is a rare WHO grade 3 intraventricular epithelial
  malignancy arising from the choroid plexus, predominantly in infants and young
  children. CPC is driven most often by TP53 pathway disruption, frequently in
  the setting of germline Li-Fraumeni syndrome, and exhibits marked chromosomal
  instability with chromosome-scale gains and losses. Molecular profiling supports
  clinically relevant TP53-linked and epigenetic risk strata, but the shared causal
  program remains centered on a single CPC disease graph rather than fully distinct
  disease entities. Current management relies on maximal safe resection plus multi-agent
  chemotherapy, with radiotherapy individualized by age, metastatic status, and
  TP53/predisposition context.
categories:
- Central Nervous System Neoplasm
- Pediatric Brain Tumor
- Intraventricular Neoplasm
- High-Grade Tumor
parents:
- choroid plexus neoplasm
disease_term:
  preferred_term: choroid plexus carcinoma
  term:
    id: MONDO:0016718
    label: choroid plexus carcinoma
epidemiology:
- name: Rare pediatric brain tumor
  description: >-
    CPC is an uncommon pediatric brain tumor. Choroid plexus tumors collectively
    make up a small fraction of pediatric CNS tumors, and CPC itself accounts for
    less than 1% of pediatric brain tumors.
  evidence:
  - reference: PMID:41198335
    reference_title: "An overview of the diagnosis and management of Choroid Plexus tumors."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Choroid Plexus Tumors (CPT) are rare (2-4% of all pediatric CNS tumors), predominantly early childhood brain neoplasms."
    explanation: Supports rarity of the choroid plexus tumor family in pediatric CNS oncology.
  - reference: PMID:39364273
    reference_title: "Obstructive hydrocephalus due to choroid plexus carcinoma of third ventricle in pediatric: A rare case report."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Choroid plexus carcinoma (CPC) is an uncommon tumor that accounts for less than 1% of all pediatric brain tumors."
    explanation: Supports the very low frequency of CPC among pediatric brain tumors.
has_subtypes:
- name: Childhood
  display_name: Childhood Choroid Plexus Carcinoma
  subtype_term:
    preferred_term: Childhood Choroid Plexus Carcinoma
    term:
      id: MONDO:0002685
      label: childhood choroid plexus carcinoma
  classification: age_group
  description: >-
    Most CPC cases occur in infants and very young children, with peak presentation
    under 2 to 3 years of age.
  evidence:
  - reference: PMID:35592824
    reference_title: "Asymptomatic choroid plexus carcinoma in an infant: Report of one case."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Choroid Plexus Carcinomas (CPC) are rare malignant brain neoplasms of choroid plexus epithelium, with a tendency to occur in infants and children, especially those who are under two years of age."
    explanation: Supports childhood predominance, especially infancy.
- name: TP53-Altered
  display_name: TP53-Altered Choroid Plexus Carcinoma
  classification: molecular
  description: >-
    CPC with germline or somatic TP53 alteration. This facet overlaps strongly
    with Li-Fraumeni-associated disease and marks a high-risk clinical course.
  evidence:
  - reference: PMID:33506206
    reference_title: "Outcome and molecular analysis of young children with choroid plexus carcinoma treated with non-myeloablative therapy: results from the SJYC07 trial."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients with TP53-wild-type tumors had a 5-year PFS of 100% as compared to 28.6 ± 17.1% for TP53-mutant tumors (P = .012)."
    explanation: Supports TP53-altered CPC as a clinically meaningful high-risk molecular facet.
- name: TP53-Wildtype
  display_name: TP53-Wildtype Choroid Plexus Carcinoma
  classification: molecular
  description: >-
    CPC lacking detectable TP53 mutation in current cohorts. This facet has substantially
    better progression-free survival than TP53-altered disease in available pediatric
    trial data.
  evidence:
  - reference: PMID:33506206
    reference_title: "Outcome and molecular analysis of young children with choroid plexus carcinoma treated with non-myeloablative therapy: results from the SJYC07 trial."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients with TP53-wild-type tumors had a 5-year PFS of 100% as compared to 28.6 ± 17.1% for TP53-mutant tumors (P = .012)."
    explanation: Supports TP53-wildtype CPC as a more favorable molecular facet relative to TP53-mutant disease.
- name: Li-Fraumeni-Associated
  display_name: Li-Fraumeni-Associated Choroid Plexus Carcinoma
  subtype_term:
    preferred_term: Li-Fraumeni syndrome
    term:
      id: MONDO:0018875
      label: Li-Fraumeni syndrome
  classification: predisposition_context
  description: >-
    CPC arising in the setting of germline TP53-associated Li-Fraumeni syndrome.
    This context is clinically important because it influences surveillance and
    can shift the risk-benefit balance away from radiotherapy.
  evidence:
  - reference: PMID:41198335
    reference_title: "An overview of the diagnosis and management of Choroid Plexus tumors."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "A significant proportion of CPCs are driven by either somatic or germline TP53 mutations (Li-Fraumeni syndrome); however, other molecular drivers of CPT tumorigenesis remain poorly understood."
    explanation: Supports Li-Fraumeni syndrome as a clinically important predisposition context for CPC.
pathophysiology:
- name: TP53 Tumor Suppressor Loss
  description: >-
    TP53 alteration is the dominant recurrent genetic lesion in CPC. Germline or
    somatic loss of TP53 function removes a major checkpoint barrier to malignant
    transformation of choroid plexus epithelial cells.
  evidence:
  - reference: PMID:36534940
    reference_title: "Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "All studied CPCs had smooth mutational profiles with the only recurrent event being TP53 variants, either germline or somatic, encountered in 13 cases."
    explanation: Supports recurrent germline or somatic TP53 alteration as the dominant molecular lesion in CPC.
  cell_types:
  - preferred_term: choroid plexus epithelial cell
    term:
      id: CL:0000706
      label: choroid plexus epithelial cell
  locations:
  - preferred_term: choroid plexus
    term:
      id: UBERON:0001886
      label: choroid plexus
  biological_processes:
  - preferred_term: cell cycle checkpoint signaling
    modifier: DECREASED
    term:
      id: GO:0000075
      label: cell cycle checkpoint signaling
  - preferred_term: apoptotic process
    modifier: DECREASED
    term:
      id: GO:0006915
      label: apoptotic process
  downstream:
  - target: Chromosomal Instability
    description: Loss of TP53-associated genome surveillance permits accumulation of chromosome-scale alterations
- name: Chromosomal Instability
  description: >-
    CPC genomes are dominated by broad copy-number change rather than numerous
    recurrent point mutations. Whole-chromosome gains and losses, multiple monosomies,
    and in a subset complex rearrangements or chromothripsis, are characteristic.
  evidence:
  - reference: PMID:36534940
    reference_title: "Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Unbalanced whole-chromosome aberrations, notably multiple monosomies, were highly typical."
    explanation: Supports pervasive chromosome-scale copy-number imbalance as a core CPC mechanism.
  - reference: PMID:36534940
    reference_title: "Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "In 7 tumors, chromosome losses were combined with complex genomic rearrangements: segmental gains and losses or signs of chromothripsis."
    explanation: Supports a high-instability CPC subset with chromothripsis-like complexity.
  biological_processes:
  - preferred_term: chromosome organization
    modifier: ABNORMAL
    term:
      id: GO:0051276
      label: chromosome organization
  downstream:
  - target: Wnt/Beta-Catenin Pathway Activation
    description: Genome-scale alterations are linked to Wnt pathway activation in CPC models and human tumors
  - target: Cell Cycle Program Activation
    description: Copy-number imbalance supports a highly proliferative transcriptional state
- name: Wnt/Beta-Catenin Pathway Activation
  description: >-
    Wnt/beta-catenin signaling is activated in human choroid plexus tumors and
    functionally required for survival of CPT-derived cells. Experimental pathway
    activation is sufficient to drive oncogenic behavior in choroid plexus models.
  evidence:
  - reference: PMID:39215664
    reference_title: "Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We discovered that Wnt/β-catenin signaling is activated in human CPTs, likely as a consequence of large-scale chromosomal instability events of the CPT genomes."
    explanation: Supports Wnt/beta-catenin activation in human choroid plexus tumors and links it to chromosomal instability.
  - reference: PMID:39215664
    reference_title: "Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus."
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: "We demonstrated that CPT-derived cells depend on autocrine Wnt/β-catenin signaling for survival."
    explanation: Functional cell-based evidence that CPC-related cells depend on autocrine Wnt signaling.
  cell_types:
  - preferred_term: choroid plexus epithelial cell
    term:
      id: CL:0000706
      label: choroid plexus epithelial cell
  biological_processes:
  - preferred_term: canonical Wnt signaling pathway
    modifier: INCREASED
    term:
      id: GO:0060070
      label: canonical Wnt signaling pathway
  downstream:
  - target: Impaired Choroid Plexus Epithelial Differentiation
    description: Wnt hyperactivation reduces mature epithelial differentiation and favors tumorigenic state
- name: Impaired Choroid Plexus Epithelial Differentiation
  description: >-
    CPC cells lose features of mature choroid plexus epithelium. Experimental
    Wnt hyperactivation reduces differentiation of mature epithelial cells and
    supports oncogenic transformation of choroid plexus organoids.
  evidence:
  - reference: PMID:39215664
    reference_title: "Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus."
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: "Increased activation of the Wnt/β-catenin pathway in ChP organoids, through treatment with a potent GSK3β inhibitor, reduced the differentiation of mature ChP epithelial cells."
    explanation: Supports differentiation failure as a direct downstream consequence of Wnt hyperactivation in choroid plexus models.
  cell_types:
  - preferred_term: choroid plexus epithelial cell
    term:
      id: CL:0000706
      label: choroid plexus epithelial cell
  biological_processes:
  - preferred_term: cell differentiation
    modifier: DECREASED
    term:
      id: GO:0030154
      label: cell differentiation
  downstream:
  - target: Cell Cycle Program Activation
    description: Dedifferentiated epithelial cells adopt a more proliferative tumor phenotype
- name: Cell Cycle Program Activation
  description: >-
    Compared with papilloma, CPC shows transcriptional upregulation of cell-cycle
    genes and a more invasive progression-associated program. This state supports
    rapid growth and dissemination-prone behavior.
  evidence:
  - reference: PMID:38867333
    reference_title: "Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Differential gene expression analysis uncovered a significant overexpression of genes related to cell cycle regulation and epithelial-mesenchymal transition pathways in CPC compared to CPP."
    explanation: Supports activation of proliferative cell-cycle programs in CPC relative to papilloma.
  cell_types:
  - preferred_term: choroid plexus epithelial cell
    term:
      id: CL:0000706
      label: choroid plexus epithelial cell
  biological_processes:
  - preferred_term: regulation of cell cycle process
    modifier: INCREASED
    term:
      id: GO:0010564
      label: regulation of cell cycle process
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
histopathology:
- name: WHO Grade III Choroid Plexus Carcinoma
  finding_term:
    preferred_term: Choroid Plexus Carcinoma
    term:
      id: NCIT:C4715
      label: Choroid Plexus Carcinoma
  diagnostic: true
  description: >-
    CPC is the malignant, WHO grade III member of the choroid plexus tumor family.
  evidence:
  - reference: PMID:33717766
    reference_title: "Cerebellopontine Angle Primary Choroid Plexus Carcinoma Present in an Adult: Case Report and Literature Review."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Of the CPT subtypes, choroid plexus carcinomas (CPC) are highly aggressive and malignant and of World Health Organization (WHO) Grade III."
    explanation: Supports the malignant WHO grade III histopathologic designation of CPC.
phenotypes:
- category: Neurological
  name: Hydrocephalus
  description: >-
    Hydrocephalus is common at presentation because the tumor obstructs CSF pathways
    and may also contribute to CSF hypersecretion.
  phenotype_term:
    preferred_term: Hydrocephalus
    term:
      id: HP:0000238
      label: Hydrocephalus
  evidence:
  - reference: PMID:34754533
    reference_title: "Persistence of communicating hydrocephalus post choroid plexus tumor resection: Case reports and review of literature."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Hydrocephalus is the most common presentation of choroid plexus tumors; it is thought to be caused either by mass effect obstructing the cerebrospinal fluid pathways or secretory properties of the tumor."
    explanation: Supports hydrocephalus as a common presenting phenotype and provides a mechanistic explanation relevant to CPC.
- category: Neurological
  name: Headache
  description: >-
    Headache is a common presenting symptom of CPC, typically reflecting raised
    intracranial pressure from intraventricular tumor growth and hydrocephalus.
  phenotype_term:
    preferred_term: Headache
    term:
      id: HP:0002315
      label: Headache
  evidence:
  - reference: PMID:35592824
    reference_title: "Asymptomatic choroid plexus carcinoma in an infant: Report of one case."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."
    explanation: Supports headache as part of the common CPC presenting symptom complex.
- category: Neurological
  name: Vomiting
  description: >-
    Vomiting is a common presenting symptom of raised intracranial pressure in CPC.
  phenotype_term:
    preferred_term: Vomiting
    term:
      id: HP:0002013
      label: Vomiting
  evidence:
  - reference: PMID:35592824
    reference_title: "Asymptomatic choroid plexus carcinoma in an infant: Report of one case."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."
    explanation: Supports vomiting as part of the common CPC presenting symptom complex.
- category: Neurological
  name: Seizure
  description: >-
    Seizures can accompany CPC presentation, particularly with large supratentorial
    intraventricular tumors.
  phenotype_term:
    preferred_term: Seizure
    term:
      id: HP:0001250
      label: Seizure
  evidence:
  - reference: PMID:35592824
    reference_title: "Asymptomatic choroid plexus carcinoma in an infant: Report of one case."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."
    explanation: Supports seizures as part of the presenting CPC phenotype spectrum.
biochemical:
- name: DNA Methylation Classifier Assignment
  notes: >-
    Genome-wide DNA methylation profiling can confirm or challenge histologic grade
    assignment in choroid plexus tumors and adds prognostic information beyond
    microscopy alone.
  evidence:
  - reference: PMID:38962753
    reference_title: "Clinical utility of DNA methylation profiling for choroid plexus tumors."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Results indicated that methylation profiling may serve as a valuable tool in the clinical decision-making process for patients with CPTs, providing additional prognostic information compared to WHO histologic grade alone."
    explanation: Supports DNA methylation profiling as a clinically useful diagnostic and prognostic biomarker strategy for CPC.
  - reference: PMID:38962753
    reference_title: "Clinical utility of DNA methylation profiling for choroid plexus tumors."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "There was good correlation (11/12, 92%) between methylation class and WHO histologic grade for choroid plexus carcinomas (CPC);"
    explanation: Supports strong but not perfect alignment between histologic CPC and methylation-class CPC.
genetic:
- name: TP53
  association: Germline and Somatic Tumor Suppressor Loss
  gene_term:
    preferred_term: TP53
    term:
      id: hgnc:11998
      label: TP53
  notes: >-
    TP53 is the dominant recurrently altered gene in CPC. Both germline and somatic
    alterations occur; germline cases overlap with Li-Fraumeni syndrome and have
    important treatment implications.
  evidence:
  - reference: PMID:36534940
    reference_title: "Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "All studied CPCs had smooth mutational profiles with the only recurrent event being TP53 variants, either germline or somatic, encountered in 13 cases."
    explanation: Supports TP53 as the dominant recurrently altered gene in CPC.
  - reference: PMID:33506206
    reference_title: "Outcome and molecular analysis of young children with choroid plexus carcinoma treated with non-myeloablative therapy: results from the SJYC07 trial."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "TP53-mutational status was the only significant prognostic variable and should form the basis of risk-stratification in future trials."
    explanation: Supports the strong prognostic and trial-stratification significance of TP53 status in CPC.
- name: EPHA7
  association: Somatic Mutation
  gene_term:
    preferred_term: EPHA7
    term:
      id: hgnc:3390
      label: EPHA7
  notes: >-
    EPHA7 mutation is less established than TP53 but emerged as a mutually exclusive
    recurrent point-mutation event in a pediatric multiomics CPC cohort.
  evidence:
  - reference: PMID:38867333
    reference_title: "Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Mutually exclusive TP53 and EPHA7 point mutations, coupled with the amplification of chromosome 1, were exclusively identified in CPC."
    explanation: Supports EPHA7 as a CPC-enriched somatic mutation in pediatric multiomics data.
treatments:
- name: Gross Total Resection
  description: >-
    Maximal safe gross total resection is the core local therapy for CPC and the
    strongest surgical goal when anatomy and bleeding risk permit.
  treatment_term:
    preferred_term: Gross Total Resection
    term:
      id: NCIT:C131672
      label: Gross Total Resection
  evidence:
  - reference: PMID:41736349
    reference_title: "Neoadjuvant Chemotherapy in Choroid Plexus Carcinoma: Improving Surgical Safety and Resection Outcomes."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Complete surgical resection offers the best chance of long-term survival, but this is often difficult due to excessive intraoperative bleeding."
    explanation: Supports gross total resection as the key surgical objective in CPC.
  - reference: PMID:38339361
    reference_title: "Prognostic Factors and Nomogram for Choroid Plexus Tumors: A Population-Based Retrospective Surveillance, Epidemiology, and End Results Database Analysis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Meanwhile, in patients with CPC, gross total resection (GTR) was associated with significantly better OS than subtotal resection (STR) only."
    explanation: Population-level evidence that GTR improves overall survival relative to STR alone in CPC.
- name: CarbEV Chemotherapy
  description: >-
    Carboplatin-etoposide-vincristine (CarbEV/CEV) chemotherapy is an established
    CPC backbone and was superior to CycEV in the randomized CPC arm of CPT-SIOP-2000.
  treatment_term:
    preferred_term: chemotherapy
    term:
      id: MAXO:0000647
      label: chemotherapy
    therapeutic_agent:
    - preferred_term: carboplatin
      term:
        id: CHEBI:31355
        label: carboplatin
    - preferred_term: etoposide
      term:
        id: NCIT:C491
        label: Etoposide
    - preferred_term: vincristine
      term:
        id: CHEBI:28445
        label: vincristine
  evidence:
  - reference: PMID:34997889
    reference_title: "Final results of the Choroid Plexus Tumor study CPT-SIOP-2000."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "For randomized CPC, the 5/10 year progression free survival (PFS) of patients on CarbEV (n = 20) were 62%/47%, respectively, compared to 27%/18%, on CycEV (n = 15), (intention-to-treat, HR 2.6, p = 0.032)."
    explanation: Supports the efficacy and superiority of the carboplatin-etoposide-vincristine backbone in CPC.
- name: High-Dose Methotrexate-Containing Chemotherapy
  description: >-
    High-dose methotrexate-containing induction chemotherapy can produce durable
    progression-free survival in young children with CPC and is used in non-myeloablative
    infant-focused protocols.
  treatment_term:
    preferred_term: chemotherapy
    term:
      id: MAXO:0000647
      label: chemotherapy
    therapeutic_agent:
    - preferred_term: methotrexate
      term:
        id: NCIT:C642
        label: Methotrexate
  evidence:
  - reference: PMID:33506206
    reference_title: "Outcome and molecular analysis of young children with choroid plexus carcinoma treated with non-myeloablative therapy: results from the SJYC07 trial."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Non-myeloablative high-dose methotrexate-containing therapy with maximal surgical resection resulted in long-term PFS in more than half of patients with CPC."
    explanation: Supports high-dose methotrexate-containing chemotherapy as an effective pediatric CPC regimen.
- name: Craniospinal Irradiation
  description: >-
    Radiotherapy is used in a risk-adapted way in older children with CPC. Craniospinal
    fields are reserved for metastatic or non-responsive disease in protocolized
    treatment.
  treatment_term:
    preferred_term: Craniospinal Irradiation
    term:
      id: NCIT:C116437
      label: Craniospinal Irradiation
  evidence:
  - reference: PMID:34997889
    reference_title: "Final results of the Choroid Plexus Tumor study CPT-SIOP-2000."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients older than three years were recommended to receive irradiation: focal fields for non-metastatic CPC, incompletely resected atypical choroid plexus papilloma (APP) or metastatic choroid plexus papilloma (CPP); craniospinal fields for metastatic CPC/APP and non-responsive CPC."
    explanation: Supports protocolized use of craniospinal irradiation for metastatic or non-responsive CPC.
diagnosis:
- name: Magnetic resonance imaging
  diagnosis_term:
    preferred_term: magnetic resonance imaging procedure
    term:
      id: MAXO:0000424
      label: magnetic resonance imaging procedure
  description: >-
    MRI is central to identifying the intraventricular mass, associated edema,
    and hydrocephalus.
  results: Enhancing intraventricular mass with hydrocephalus or local invasion supports CPC evaluation.
  evidence:
  - reference: PMID:33879216
    reference_title: "Choroid plexus carcinoma in an adolescent male: a case report."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      After initial stabilization, brain magnetic resonance imaging (MRI) revealed a heterogeneously enhancing mass
    explanation: This directly supports MRI as a core diagnostic modality.
- name: Histopathologic examination
  description: >-
    Definitive diagnosis depends on pathologic evaluation demonstrating
    malignant choroid plexus epithelial features and brain invasion.
  results: Malignant papillary epithelial tumor with mitoses, necrosis, and invasion confirms CPC.
  evidence:
  - reference: PMID:18684041
    reference_title: Choroid plexus carcinoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Accurate histopathologic diagnosis is imperative
    explanation: This review directly supports pathology as the definitive diagnostic step.
differential_diagnoses:
- name: Choroid plexus papilloma
  disease_term:
    preferred_term: choroid plexus papilloma
    term:
      id: MONDO:0009837
      label: choroid plexus papilloma
  description: >-
    CPP is the closest pathologic differential and is distinguished by less
    aggressive histology and distinct molecular features.
  evidence:
  - reference: PMID:38867333
    reference_title: Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The aim of this study was to investigate the genomic and epigenomic characteristics of CPT and identify the differences between choroid plexus papilloma (CPP) and choroid plexus carcinoma (CPC).
    explanation: This directly supports CPP as a key differential diagnosis.
- name: Ependymoma
  disease_term:
    preferred_term: ependymoma
    term:
      id: MONDO:0016698
      label: ependymoma
  description: >-
    Papillary intraventricular ependymoma can mimic CPC radiologically and
    pathologically and must be excluded.
  evidence:
  - reference: PMID:1185253
    reference_title: Choroid plexus carcinoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Differentiation of this neoplasm from papillary ependymomas, choroid plexus papillomas, secondary carcinomas, and "collision tumors" is discussed.
    explanation: This directly supports ependymoma as a CPC differential.
classifications:
  icdo_morphology:
    classification_value: Carcinoma
  harrisons_chapter:
  - classification_value: cancer
  - classification_value: solid tumor
mappings:
  mondo_mappings:
  - term:
      id: MONDO:0016718
      label: choroid plexus carcinoma
    mapping_predicate: skos:exactMatch
    mapping_source: MONDO
    mapping_justification: Primary MONDO disease identifier for this CPC entry.
datasets:
- accession: PMID:36534940
  title: Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis.
  description: >-
    Pediatric clinical-molecular cohort integrating mutational, chromosomal,
    transcriptomic, and outcome data across CPC cases.
  organism:
    preferred_term: Homo sapiens
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  sample_count: 25
  conditions:
  - pediatric choroid plexus carcinoma
  - TP53-altered CPC
  publication: PMID:36534940
  evidence:
  - reference: PMID:36534940
    reference_title: Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      This retrospective study enrolled 25 pediatric patients with CPC
    explanation: This supports the study as a reusable pediatric CPC cohort dataset.

📚

References & Deep Research

Deep Research

1

Choroid Plexus Carcinoma Deep Research ▸

Choroid Plexus Carcinoma Deep Research

Date: 2026-04-13 Issue: #1217 Disease page target: kb/disorders/Choroid_Plexus_Carcinoma.yaml

Modeling decisions applied from cancer curation issue `#1198`

The dismech graph unit is the disease-level CPC entry, not every ontology subclass.
The primary disease anchor is MONDO:0016718 (choroid plexus carcinoma).
I used NCIT where the cancer-specific term was materially better than a generic action or broad parent term:
NCIT:C4715 Choroid Plexus Carcinoma
NCIT:C131672 Gross Total Resection
NCIT:C116437 Craniospinal Irradiation
I initially evaluated NCIT:C124292 (Childhood Choroid Plexus Carcinoma) and regimen-level NCIT treatment terms, but the current schema validators only accept the disease-term ontology set for subtype_term and the treatment-action enum set for treatment_term. The final YAML therefore uses:
MONDO:0002685 for the childhood subtype facet
generic chemotherapy action terms plus explicitly named agents for CarbEV and high-dose methotrexate
I kept subtype schemes flat and facet-like instead of treating them as separate disorder pages:
Childhood (age_group)
TP53-Altered / TP53-Wildtype (molecular)
Li-Fraumeni-Associated (predisposition_context)
I did not split Ped_CPC1 and Ped_CPC2 into separate disease files. Current data support prognostic molecular clustering, but not a clearly separate causal program with stable ontology-backed disease classes.

Disease framing

CPC is rare and pediatric-predominant.
PMID:41198335: "Choroid Plexus Tumors (CPT) are rare (2-4% of all pediatric CNS tumors), predominantly early childhood brain neoplasms."
PMID:39364273: "Choroid plexus carcinoma (CPC) is an uncommon tumor that accounts for less than 1% of all pediatric brain tumors."
PMID:35592824: "Choroid Plexus Carcinomas (CPC) are rare malignant brain neoplasms of choroid plexus epithelium, with a tendency to occur in infants and children, especially those who are under two years of age."
WHO/histology placement:
PMID:33717766: "Of the CPT subtypes, choroid plexus carcinomas (CPC) are highly aggressive and malignant and of World Health Organization (WHO) Grade III."

Mechanism summary

TP53 loss is the dominant recurrent lesion.
PMID:36534940: "All studied CPCs had smooth mutational profiles with the only recurrent event being TP53 variants, either germline or somatic, encountered in 13 cases."
TP53 status is clinically decisive and should shape risk stratification.
PMID:33506206: "TP53-mutational status was the only significant prognostic variable and should form the basis of risk-stratification in future trials."
PMID:33506206: "Patients with TP53-wild-type tumors had a 5-year PFS of 100% as compared to 28.6 ± 17.1% for TP53-mutant tumors (P = .012)."
CPC is genomically unstable at the chromosome scale.
PMID:36534940: "Unbalanced whole-chromosome aberrations, notably multiple monosomies, were highly typical."
PMID:36534940: "In 7 tumors, chromosome losses were combined with complex genomic rearrangements: segmental gains and losses or signs of chromothripsis."
CPC has additional recurrent molecular features beyond TP53.
PMID:38867333: "Mutually exclusive TP53 and EPHA7 point mutations, coupled with the amplification of chromosome 1, were exclusively identified in CPC."
Wnt/beta-catenin signaling is a mechanistic driver, not just a correlative marker.
PMID:39215664: "We discovered that Wnt/β-catenin signaling is activated in human CPTs, likely as a consequence of large-scale chromosomal instability events of the CPT genomes."
PMID:39215664: "We demonstrated that CPT-derived cells depend on autocrine Wnt/β-catenin signaling for survival."
PMID:39215664: "Increased activation of the Wnt/β-catenin pathway in ChP organoids, through treatment with a potent GSK3β inhibitor, reduced the differentiation of mature ChP epithelial cells."
CPC adopts a proliferative and invasion-associated transcriptional program.
PMID:38867333: "Differential gene expression analysis uncovered a significant overexpression of genes related to cell cycle regulation and epithelial-mesenchymal transition pathways in CPC compared to CPP."
PMID:38867333: "Overexpression of genes associated with tumor metastasis and progression was observed in the CPC subgroup with leptomeningeal dissemination."

Molecular subgroup evidence retained in research, not split into new disease pages

PMID:39036437: "Preliminary data indicate that choroid plexus carcinomas comprise at least 2 epigenetic subgroups, one of which is associated with TP53 mutation status."
PMID:36534940: "Transcriptomically, the cohort split into 2 polar clusters Ped_CPC1 and Ped_CPC2 differing by survival: 31.3 ± 17.8% vs 100%; P = .012."
Rationale:
These data are important and were used to justify subtype facets and a methylation biomarker entry.
They do not yet justify separate dismech disease pages because the evidence base is still cohort-level risk stratification rather than a settled, distinct causal program with stable MONDO/NCIT disease subclasses.

Clinical presentation and pathology

Hydrocephalus is the dominant presenting syndrome for the choroid plexus tumor family.
PMID:34754533: "Hydrocephalus is the most common presentation of choroid plexus tumors; it is thought to be caused either by mass effect obstructing the cerebrospinal fluid pathways or secretory properties of the tumor."
Common CPC symptoms:
PMID:35592824: "The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures."
Example pediatric presentation illustrating raised ICP and focal deficits:
PMID:39364273: "We report an extremely rare tumor arising from the choroid plexus of the third ventricle in a 6-year-old child with progressive headache, macrocephaly, left hemiparesis, and sunset eyes."

Treatment evidence

Surgery remains the core local treatment.
PMID:41736349: "Complete surgical resection offers the best chance of long-term survival, but this is often difficult due to excessive intraoperative bleeding."
PMID:38339361: "Meanwhile, in patients with CPC, gross total resection (GTR) was associated with significantly better OS than subtotal resection (STR) only."
CarbEV/CEV is supported by the randomized CPC arm of CPT-SIOP-2000.
PMID:34997889: "For randomized CPC, the 5/10 year progression free survival (PFS) of patients on CarbEV (n = 20) were 62%/47%, respectively, compared to 27%/18%, on CycEV (n = 15), (intention-to-treat, HR 2.6, p = 0.032)."
PMID:34997889: "Chemotherapy for Choroid Plexus Carcinoma is feasible and effective. CarbEV is superior to CycEV. A subset of CPC can be cured without irradiation."
High-dose methotrexate-containing therapy is a strong pediatric option.
PMID:33506206: "Non-myeloablative high-dose methotrexate-containing therapy with maximal surgical resection resulted in long-term PFS in more than half of patients with CPC."
Radiotherapy needs context-sensitive use.
PMID:34997889: "Patients older than three years were recommended to receive irradiation: focal fields for non-metastatic CPC, incompletely resected atypical choroid plexus papilloma (APP) or metastatic choroid plexus papilloma (CPP); craniospinal fields for metastatic CPC/APP and non-responsive CPC."
TP53-mutant/Li-Fraumeni disease changes the treatment conversation.
PMID:41198335: "Advances in molecular profiling have revealed that TP53-mutated CPCs have significantly worse outcomes."
PMID:41198335: "Preliminary evidence suggests that TP53-mutant patients may be getting less benefit from RT, but greater benefit from myeloablative chemotherapy approach with avoidance of RT."

Biomarker/diagnostic evidence

DNA methylation profiling adds real clinical value in CPC.
PMID:38962753: "There was good correlation (11/12, 92%) between methylation class and WHO histologic grade for choroid plexus carcinomas (CPC);"
PMID:38962753: "Results indicated that methylation profiling may serve as a valuable tool in the clinical decision-making process for patients with CPTs, providing additional prognostic information compared to WHO histologic grade alone."

Evidence source choices used in the YAML

HUMAN_CLINICAL
retrospective cohorts, trial reports, SEER analyses, and clinical molecular studies (PMIDs 34997889, 36534940, 33506206, 38867333, 38962753, 38339361, 39364273, 34754533)
IN_VITRO
mechanistic cell/organoid experiments from PMID 39215664
OTHER
narrative reviews or case-report introduction/background statements used only where they captured disease-wide framing better than a primary-study abstract (PMIDs 41198335, 35592824, 33717766, 41736349)

Open curation note

The schema currently exposes mondo_mappings but not an explicit ncit_mappings block, and it also restricts subtype_term and treatment_term to narrower ontology sets than ideal for some cancer facets/regimens. To respect the #1198 guidance without inventing a schema extension, I placed NCIT grounding where the schema allowed it most cleanly:
disease/histopathology identity via finding_term
oncology-specific procedures via treatment_term
regimen specificity via named agents and evidence-backed descriptions

Choroid Plexus Carcinoma

Ask OpenScientist

OpenScientist Report

Classifications

Mappings

Subtypes

Pathophysiology

Histopathology

Pathograph

Phenotypes

Genetic Associations

Treatments

Biochemical Markers

Differential Diagnoses

Related Datasets

Source YAML

References & Deep Research

Deep Research

Choroid Plexus Carcinoma Deep Research

Modeling decisions applied from cancer curation issue `#1198`

Disease framing

Mechanism summary

Molecular subgroup evidence retained in research, not split into new disease pages

Clinical presentation and pathology

Treatment evidence

Biomarker/diagnostic evidence

Evidence source choices used in the YAML

Open curation note

Ask OpenScientist

OpenScientist Report

Classifications

Mappings

Subtypes

Pathophysiology

Histopathology

Pathograph

Phenotypes

Genetic Associations

Treatments

Biochemical Markers

Differential Diagnoses

Related Datasets

Source YAML

References & Deep Research

Deep Research

Choroid Plexus Carcinoma Deep Research

Modeling decisions applied from cancer curation issue #1198

Disease framing

Mechanism summary

Molecular subgroup evidence retained in research, not split into new disease pages

Clinical presentation and pathology

Treatment evidence

Biomarker/diagnostic evidence

Evidence source choices used in the YAML

Open curation note

Modeling decisions applied from cancer curation issue `#1198`