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ORPHA:252050

Primary melanoma of the central nervous system

low confidenceDisorder

Also known as: Malignant melanoma of meninges · Primary melanoma of the CNS

Publications

1,463

Trials

1

Interventional, condition-specific

Researchers

1,090

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.

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 (9)

CNS melanoma · Central nervous system melanoma · central nervous system melanoma · central nervous system melanoma (disease) · melanoma (disease) of central nervous system · melanoma of CNS · melanoma of central nervous system · melanoma of the CNS · melanoma of the Central nervous system

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

    1,463 matched papers (919 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

    1 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?

1,463

1,463 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.

1,463 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).

919 in the last 10 years · low confidence

Phrase hits: 1,463 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,090

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
    Aziz N3 papers · 2026

    Internal Medicine Department, Wyckoff Heights Medical Center, Brooklyn, New York, USA.

    Papers in Europe PMC
  2. 02
    Elsherif Y3 papers · 2026

    Internal Medicine Department, Zayed Military Hospital, Abu Dhabi, UAE.

    Papers in Europe PMC
  3. 03
    Haque S3 papers · 2025

    Memorial Sloan Kettering Cancer Center , New York, NY,

    Papers in Europe PMC
  4. 04
    Khakoo Y3 papers · 2025

    Memorial Sloan Kettering Cancer Center , New York, NY,

    Papers in Europe PMC
  5. 05
    Kinsler VA3 papers · 2024

    Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, U.K.

    Papers in Europe PMC
  6. 06
    Sener U3 papers · 2026

    Memorial Sloan Kettering Cancer Center , New York, NY,

    Papers in Europe PMC
  7. 07
    Tawbi H3 papers · 2023

    Department of Melanoma Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  8. 08
    Wang Y3 papers · 2024

    Department of Oncology, The Third People's Hospital of Zhengzhou, Zhengzhou, Henan 450000, China.

    Papers in Europe PMC
  9. 09
    Zhang Y3 papers · 2025

    Department of Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 201900, China.

    Papers in Europe PMC
  10. 10
    Abarzua-Araya Á2 papers · 2024

    Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, 08036 Barcelona, Spain; (E.S.); (Á.A.-A.); (D.R.-P.); (J.M.); (S.P.); (S.P.)

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 2,889 trials are registered for melanoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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: melanoma

2,889

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

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.

"Primary melanoma of the central nervous system" OR "Primary melanoma of central nervous system" OR "Malignant melanoma of meninges" OR "Malignant melanoma of the meninges" OR "Primary melanoma of the CNS" OR "Primary melanoma of CNS" OR "CNS melanoma" OR "Central nervous system melanoma" OR "central nervous system melanoma (disease)" OR "melanoma (disease) of central nervous system" OR "melanoma (disease) of the central nervous system" OR "melanoma of CNS" OR "melanoma of the CNS" OR "melanoma of central nervous system" OR "melanoma of the central nervous system"

Run this search on Europe PMC

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

"Primary melanoma of the central nervous system" OR "Primary melanoma of central nervous system" OR "Malignant melanoma of meninges" OR "Malignant melanoma of the meninges" OR "Primary melanoma of the CNS" OR "Primary melanoma of CNS" OR "CNS melanoma" OR "Central nervous system melanoma" OR "central nervous system melanoma (disease)" OR "melanoma (disease) of central nervous system" OR "melanoma (disease) of the central nervous system" OR "melanoma of CNS" OR "melanoma of the CNS" OR "melanoma of central nervous system" OR "melanoma of the central nervous system"

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

Parent-category trials query:

"melanoma"

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
  • Publication count (1463) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:59:03.280Z