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ORPHA:251899

Choroid plexus carcinoma

low confidenceDisorder

Publications

1,622

Trials

8

Interventional, condition-specific

Researchers

1,186

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, and enlarged head circumference.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

anaplastic choroid plexus papilloma · carcinoma of choroid plexus · carcinoma of the choroid plexus · carcinoma, choroid plexus, malignant · choroid plexus carcinoma · choroid plexus carcinoma (morphologic abnormality)

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,622 matched papers (1,033 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,622

1,622 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,622 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,033 in the last 10 years · low confidence

Phrase hits: 1,622 · MeSH hits: 45

Open Europe PMC search

Who's working on it?

1,186

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gilbertson RJ7 papers · 2026

    CRUK Cambridge Institute, , Li Ka Shing Centre, Robinson Way , ,

    Papers in Europe PMC
  2. 02
    Thomas C6 papers · 2026

    Institute of Neuropathology, University Hospital Münster, Münster, Germany.

    Papers in Europe PMC
  3. 03
    Finlay JL5 papers · 2025

    Pediatrics and Radiation Oncology, The Ohio State University College of Medicine, Columbus, OH, USA.

    Papers in Europe PMC
  4. 04
    Hasselblatt M5 papers · 2026

    Institute of Neuropathology, University Hospital Münster, Münster, Germany.

    Papers in Europe PMC
  5. 05
    Patrizi A5 papers · 2025

    Zentrum für Molekulare Biologie der Universität Heidelberg, DKFZ-ZMBH Alliance, Heidelberg, Germany.

    Papers in Europe PMC
  6. 06
    Cooper E4 papers · 2026

    CRUK Cambridge Institute, , Li Ka Shing Centre, Robinson Way , ,

    Papers in Europe PMC
  7. 07
    Kratz CP4 papers · 2026

    Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany. kratz.christian@mh-hannover.de.

    Papers in Europe PMC
  8. 08
    Masih KE4 papers · 2026

    CRUK Cambridge Institute, , Li Ka Shing Centre, Robinson Way , ,

    Papers in Europe PMC
  9. 09
    Dahmane N3 papers · 2025

    Weill Cornell Medicine , New York, NY ,

    Papers in Europe PMC
  10. 10
    Guadix SW3 papers · 2025

    Department of Neurological Surgery, Weill Cornell Medicine, New York, New York, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

low confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

8 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Choroid plexus carcinoma" OR "anaplastic choroid plexus papilloma" OR "carcinoma of choroid plexus" OR "carcinoma of the choroid plexus" OR "carcinoma, choroid plexus, malignant" OR "choroid plexus carcinoma (morphologic abnormality)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Choroid Plexus Carcinoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Choroid plexus carcinoma" OR "anaplastic choroid plexus papilloma" OR "carcinoma of choroid plexus" OR "carcinoma of the choroid plexus" OR "carcinoma, choroid plexus, malignant" OR "choroid plexus carcinoma (morphologic abnormality)"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 8 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1622) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:54:13.471Z