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ORPHA:251909

Pineoblastoma

low confidenceDisorder

Publications

2,530

Trials

34

Interventional, condition-specific

Researchers

1,252

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.

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 (19)

PNET of pineal gland · PNET of the pineal gland · pineal PNET · pineal gland PNET · pineal gland primitive neuroectodermal neoplasm · pineal gland primitive neuroectodermal tumor · pineal gland primitive neuroectodermal tumour · pineal primitive neuroectodermal neoplasm · pineal primitive neuroectodermal tumor · pineal primitive neuroectodermal tumour · pineoblastoma · pineoblastoma (WHO grade IV) · pineoblastoma, malignant · primitive neuroectodermal neoplasm of pineal gland · primitive neuroectodermal neoplasm of the pineal gland · primitive neuroectodermal tumor of pineal gland · primitive neuroectodermal tumor of the pineal gland · primitive neuroectodermal tumour of pineal gland · primitive neuroectodermal tumour of the pineal gland

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.”

3/6 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

    2,530 matched papers (1,602 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Pinealoma; Atypical behavior; Increased intracranial pressure) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    34 matched on ClinicalTrials.gov (6 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)

19

Associated phenotypes · MONDO:0016722

  • Pinealoma
  • Atypical behavior
  • Increased intracranial pressure
  • Cognitive impairment
  • Impaired convergence

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

8

Drugs / clinical candidates · MONDO_0016722

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,530

2,530 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=3967) is 59.

2,530 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,602 in the last 10 years · low confidence

Phrase hits: 2,530 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,252

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
    Cavalheiro S4 papers · 2026

    1Department of Neurology and Neurosurgery, Federal University of São Paulo.

    Papers in Europe PMC
  2. 02
    Chen KS4 papers · 2025

    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

    Papers in Europe PMC
  3. 03
    Dastoli PA4 papers · 2026

    1Department of Neurology and Neurosurgery, Federal University of São Paulo.

    Papers in Europe PMC
  4. 04
    Pfister SM4 papers · 2026

    Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Vasiljevic A4 papers · 2026

    Department of Pathology and Neuropathology, GHE, Hospices Civils de Lyon, 69500, Bron, France.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2025

    Department of Radiology, Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Cacciotti C3 papers · 2026

    Children's Hospital London Health Sciences/Western University, London, Ontario, Canada.

    Papers in Europe PMC
  8. 08
    Chiang J3 papers · 2026

    Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.

    Papers in Europe PMC
  9. 09
    Chilukuri S3 papers · 2024

    Department of Radiation Oncology, Apollo Proton Cancer Centre, Chennai, Tamil Nadu, India.

    Papers in Europe PMC
  10. 10
    El-Beltagy M3 papers · 2025

    Department of Neurosurgery Children's Cancer Hospital, Egypt and Faculty of Medicine Cairo University, Cairo, Egypt.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

34

interventional trials for this specific condition

34 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026

34 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.3th percentile).

low confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Pineoblastoma — check Associations / patient organisations on that page.

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.

"Pineoblastoma" OR "PNET of pineal gland" OR "PNET of the pineal gland" OR "pineal PNET" OR "pineal gland PNET" OR "pineal gland primitive neuroectodermal neoplasm" OR "pineal gland primitive neuroectodermal tumor" OR "pineal gland primitive neuroectodermal tumour" OR "pineal primitive neuroectodermal neoplasm" OR "pineal primitive neuroectodermal tumor" OR "pineal primitive neuroectodermal tumour" OR "pineoblastoma (WHO grade IV)" OR "pineoblastoma, malignant" OR "primitive neuroectodermal neoplasm of pineal gland" OR "primitive neuroectodermal neoplasm of the pineal gland" OR "primitive neuroectodermal tumor of pineal gland" OR "primitive neuroectodermal tumor of the pineal gland" OR "primitive neuroectodermal tumour of pineal gland" OR "primitive neuroectodermal tumour of the pineal gland"

Run this search on Europe PMC

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

"Pineoblastoma" OR "PNET of pineal gland" OR "PNET of the pineal gland" OR "pineal PNET" OR "pineal gland PNET" OR "pineal gland primitive neuroectodermal neoplasm" OR "pineal gland primitive neuroectodermal tumor" OR "pineal gland primitive neuroectodermal tumour" OR "pineal primitive neuroectodermal neoplasm" OR "pineal primitive neuroectodermal tumor" OR "pineal primitive neuroectodermal tumour" OR "pineoblastoma (WHO grade IV)" OR "pineoblastoma, malignant" OR "primitive neuroectodermal neoplasm of pineal gland" OR "primitive neuroectodermal neoplasm of the pineal gland" OR "primitive neuroectodermal tumor of pineal gland" OR "primitive neuroectodermal tumor of the pineal gland" OR "primitive neuroectodermal tumour of pineal gland" OR "primitive neuroectodermal tumour of the pineal gland"

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: 34 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2530) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:54:36.651Z