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ORPHA:46135

Primary central nervous system lymphoma

high confidenceDisorder

Also known as: PCNSL · Primary CNS lymphoma · Primary brain lymphoma

Publications

15,645

97th percentile

Trials

227

Interventional, condition-specific

Researchers

1,493

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, and personality changes.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

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 lymphoma · central nervous system lymphoma · lymphoma of central nervous system · malignant lymphomas of CNS · malignant lymphomas of the CNS · microglioma · primary CNS lymphoma · primary brain lymphoma · primary central nervous system lymphoma

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

    15,645 matched papers (10,139 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    227 matched on ClinicalTrials.gov (70 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

97

Drugs / clinical candidates · MONDO_0002571

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

15,645

15,645 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

15,645 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).

10,139 in the last 10 years · high confidence · 97th percentile (publications denominator)

Phrase hits: 15,645 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,493

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
    Wang X7 papers · 2026

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Lymphoma, Peking University Cancer Hospital & Institute, Beijing 100142, China.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2026

    Department of Neurosurgery, Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China.

    Papers in Europe PMC
  3. 03
    Zhang Y6 papers · 2026

    The First Clinical Medicine College, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  4. 04
    Li J5 papers · 2026

    Department of Hematology, The First Hospital of Jilin University, ChangChun, Jilin, China.

    Papers in Europe PMC
  5. 05
    Liu J5 papers · 2026

    Department of Hematology, The Third Affiliated Hospital of Sun Yat-Sen University, 600 Tianhe Road, Guangzhou, 510630, China.

    Papers in Europe PMC
  6. 06
    Schorb E5 papers · 2026

    Department of Medicine I, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  7. 07
    Wang H5 papers · 2026

    Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Wang J5 papers · 2026

    Department of Neurosurgery, The National Key Clinical Specialty, Guangdong Provincial Key Laboratory on Brain Function Repair and Regeneration, The Neurosurgery Institute of Guangdong Province, Zhujiang Hospital of Southern Medical University, China.

    Papers in Europe PMC
  9. 09
    Zhang M5 papers · 2026

    Department of Radiology, The First Affiliated Hospital, Zhejiang University School of Medicine, No.79, Qingchun Road, Hangzhou, Zhejiang Province, China.

    Papers in Europe PMC
  10. 10
    Zhang X5 papers · 2026

    Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

227

interventional trials for this specific condition

227 interventional trials matched this specific condition name; 70 currently recruiting in our sample.

Data as of 11 September 2026

227 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.4th percentile).

high confidence · 99.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

27 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 67 · after dedupe 67 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 67 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (67)

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 Primary central nervous system lymphoma — 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.

"Primary central nervous system lymphoma" OR "PCNSL" OR "Primary CNS lymphoma" OR "Primary brain lymphoma" OR "CNS lymphoma" OR "central nervous system lymphoma" OR "lymphoma of central nervous system" OR "lymphoma of the central nervous system" OR "malignant lymphomas of CNS" OR "malignant lymphomas of the CNS" OR "microglioma"

Run this search on Europe PMC

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

"Primary central nervous system lymphoma" OR "PCNSL" OR "Primary CNS lymphoma" OR "Primary brain lymphoma" OR "CNS lymphoma" OR "central nervous system lymphoma" OR "lymphoma of central nervous system" OR "lymphoma of the central nervous system" OR "malignant lymphomas of CNS" OR "malignant lymphomas of the CNS" OR "microglioma"

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: 227 interventional · 27 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:09:36.732Z