ORPHA:252015
Choriocarcinoma of the central nervous system
Publications
31
32.9th percentile
Trials
6
Interventional, condition-specific
Researchers
184
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016740
- UMLS:C1332876
- NCIT:C7012
Additional Mondo synonyms (4)
central nervous system choriocarcinoma · central nervous system choriocarcinoma (disease) · choriocarcinoma of CNS · choriocarcinoma of the CNS
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
31 matched papers (15 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
6 matched on ClinicalTrials.gov
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?
31
31 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
31 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).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
184
Distinct author names in 31 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.
- 01Cho Y2 papers · 2020
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo , Hokkaido,
Papers in Europe PMC - 02Iguchi A2 papers · 2020
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo , Hokkaido,
Papers in Europe PMC - 03Ishi Y2 papers · 2020
Department of Neurosurgery, Faculty of Medicine, Hokkaido University, Sapporo , Hokkaido,
Papers in Europe PMC - 04Manabe A2 papers · 2020
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo , Hokkaido,
Papers in Europe PMC - 05Motegi H2 papers · 2020
Department of Neurosurgery, Faculty of Medicine, Hokkaido University, Sapporo , Hokkaido,
Papers in Europe PMC - 06Okamoto M2 papers · 2020
Department of Neurosurgery, Faculty of Medicine, Hokkaido University, Sapporo , Hokkaido,
Papers in Europe PMC - 07Sugiyama M2 papers · 2020
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo , Hokkaido,
Papers in Europe PMC - 08Yamaguchi S2 papers · 2020
Department of Neurosurgery, Faculty of Medicine, Hokkaido University, Sapporo , Hokkaido,
Papers in Europe PMC - 09Abballe L1 paper · 2021
Department of Pediatric Hematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.
Papers in Europe PMC - 10Abdala E1 paper · 2016Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; none in our sample are currently recruiting. 13 trials are registered for choriocarcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
high confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: choriocarcinoma
13
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04684368·RECRUITING·A Study of a New Way to Treat Children and Young Adults With a Brain Tumor Called NGGCT
Conditions: Central Nervous System Nongerminomatous Germ Cell Tumor · Choriocarcinoma · Embryonal Carcinoma · Immature Teratoma·Matched via name phrase
- NCT03067181·RECRUITING·Active Surveillance, Bleomycin, Etoposide, Carboplatin or Cisplatin in Treating Pediatric and Adult Patients With Germ Cell Tumors
Conditions: Childhood Extracranial Germ Cell Tumor · Extragonadal Embryonal Carcinoma · Germ Cell Tumor · Malignant Germ Cell Tumor·Matched via name phrase
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 2026-07-26This 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.
"Choriocarcinoma of the central nervous system" OR "Choriocarcinoma of central nervous system" OR "central nervous system choriocarcinoma" OR "central nervous system choriocarcinoma (disease)" OR "choriocarcinoma of CNS" OR "choriocarcinoma of the CNS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Choriocarcinoma of the central nervous system" OR "Choriocarcinoma of central nervous system" OR "central nervous system choriocarcinoma" OR "central nervous system choriocarcinoma (disease)" OR "choriocarcinoma of CNS" OR "choriocarcinoma of the CNS"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"choriocarcinoma"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-27T10:57:54.864Z