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ORPHA:86852

B-cell prolymphocytic leukemia

low confidenceDisorder

Also known as: B-PLL

Publications

1,766

Trials

14

Interventional, condition-specific

Researchers

1,405

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.

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)

B prolymphocytic leukaemia · B prolymphocytic leukemia

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

    1,766 matched papers (903 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

    14 matched on ClinicalTrials.gov (1 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

11

Drugs / clinical candidates · MONDO_0019461

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,766

1,766 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.

1,766 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).

903 in the last 10 years · low confidence

Phrase hits: 1,766 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,405

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
    Campo E7 papers · 2024

    Department of Pathology, Hospital Clinic, Institute for Biomedical Research August Pi i Sunyer, University of Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  2. 02
    Nguyen-Khac F6 papers · 2024

    Sorbonne Université, Unité de Cytogénétique Hématologique, Hôpital Pitié-Salpêtrière, APHP, Paris, France; Centre de Recherche des Cordeliers, INSERM, Drug resistance in hematological malignancies (DRIHM) Team, Sorbonne Université, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, F-75006 Paris.

    Papers in Europe PMC
  3. 03
    Zenz T6 papers · 2024

    Department of Medical Oncology and Hematology, Universitätsspital & Universität Zürich, Zürich, Switzerland.

    Papers in Europe PMC
  4. 04
    Chapiro E5 papers · 2024

    Sorbonne Université, Unité de Cytogénétique Hématologique, Hôpital Pitié-Salpêtrière, APHP, Paris, France; Centre de Recherche des Cordeliers, INSERM, Drug resistance in hematological malignancies (DRIHM) Team, Sorbonne Université, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, F-75006 Paris.

    Papers in Europe PMC
  5. 05
    Li Y5 papers · 2026

    National Key Laboratory of Intelligent Tracking and Forecasting for Infectious Diseases (NITFID), National Immunization Program, Chinese Center for Disease Control and Prevention, Beijing, China.

    Papers in Europe PMC
  6. 06
    Medeiros LJ5 papers · 2026

    Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA.

    Papers in Europe PMC
  7. 07
    Ott G5 papers · 2024

    Universität Ulm und Universitätsklinikum Ulm Institut für Humangenetik Ulm Germany.

    Papers in Europe PMC
  8. 08
    Roos-Weil D5 papers · 2024

    Sorbonne Université, Service d'Hématologie Clinique, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Centre de Recherche des Cordeliers, INSERM, Drug resistance in hematological malignancies (DRIHM) Team, Sorbonne Université, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, F-75006 Paris. damien.roosweil@aphp.fr.

    Papers in Europe PMC
  9. 09
    Siebert R5 papers · 2024

    Robert-Bosch-Krankenhaus Abteilung für Klinische Pathologie Stuttgart Germany.

    Papers in Europe PMC
  10. 10
    Ferry JA4 papers · 2025

    Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 79 trials are registered for prolymphocytic leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

low confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: prolymphocytic leukemia

79

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

Observational and natural-history studies

1 observational study matches 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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 B-cell prolymphocytic leukemia — 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.

"B-cell prolymphocytic leukemia" OR "B-PLL" OR "B prolymphocytic leukaemia" OR "B prolymphocytic leukemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukemia, Prolymphocytic, B-Cell

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

"B-cell prolymphocytic leukemia" OR "B-PLL" OR "B prolymphocytic leukaemia" OR "B prolymphocytic leukemia" OR "Leukemia, Prolymphocytic, B-Cell"

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

Parent-category trials query:

"prolymphocytic leukemia"

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

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 (1766) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:12:12.826Z