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ORPHA:48686

Primary effusion lymphoma

low confidenceDisorder

Also known as: Body cavity-based lymphoma · PEL

Publications

5,495

Trials

11

Interventional, condition-specific

Researchers

1,058

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).

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 (2)

body cavity-based lymphoma · primary Effusion 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.”

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

    5,495 matched papers (2,628 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Pericardial effusion; Abdominal pain; Dyspnea) 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

    11 matched on ClinicalTrials.gov (3 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)

8

Associated phenotypes · MONDO:0018842

  • Pericardial effusion
  • Abdominal pain
  • Dyspnea
  • Pleural effusion
  • Abnormal peritoneum morphology

Showing 5 of 8 — 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

13

Drugs / clinical candidates · MONDO_0018842

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bortezomib · therapeutic

MyDisease.info · MONDO:0018842

Literature

Is anyone studying this?

5,495

5,495 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.

5,495 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).

2,628 in the last 10 years · low confidence

Phrase hits: 5,495 · MeSH hits: 15

Open Europe PMC search

Who's working on it?

1,058

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
    Liu Y10 papers · 2026

    Laboratory of Dermatology, Beijing Children's Hospital, Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. ying_lemon@aliyun.com.

    Papers in Europe PMC
  2. 02
    Lurain K10 papers · 2026

    HIV and AIDS Malignancy Branch, Center for Cancer Research (CCR), NCI, Bethesda, MD. kathryn.lurain@nih.gov.

    Papers in Europe PMC
  3. 03
    Ramaswami R10 papers · 2026

    HIV and AIDS Malignancy Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD.

    Papers in Europe PMC
  4. 04
    Yarchoan R9 papers · 2026

    HIV and AIDS Malignancy Branch, Center for Cancer Research (CCR), NCI, Bethesda, MD.

    Papers in Europe PMC
  5. 05
    Cirone M7 papers · 2026

    Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Benedetti R6 papers · 2026

    Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Dai L6 papers · 2026

    Department of Pathology, Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences 4301 W Markham St, Little Rock, AR 72205, USA.

    Papers in Europe PMC
  8. 08
    Gilardini Montani MS6 papers · 2026

    Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Okada S6 papers · 2026

    Division of Hematopoiesis, Joint Research Center for Human Retrovirus Infection, Kumamoto University, Honjo, Kumamoto, Japan. Electronic address: okadas@kumamoto-u.ac.jp.

    Papers in Europe PMC
  10. 10
    Qin Z6 papers · 2026

    Department of Pathology, Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences 4301 W Markham St, Little Rock, AR 72205, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

low confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 effusion 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 effusion lymphoma" OR "Body cavity-based lymphoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lymphoma, Primary Effusion

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

"Primary effusion lymphoma" OR "Body cavity-based lymphoma" OR "Lymphoma, Primary Effusion"

Interventional trials matched via: both, 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: 11 interventional · 3 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

Synonyms dropped by stoplist: PEL

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5495) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:15:24.191Z