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ORPHA:454714

Plasma cell leukemia

low confidenceDisorder

Also known as: PCL

Publications

3,388

Trials

59

Interventional, condition-specific

Researchers

1,540

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.

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 (5)

leukaemia plasmacytic · leukemia plasmacytic · plasma cell leukemia · plasmacytic leukaemia · plasmacytic 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

    3,388 matched papers (1,853 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

    59 matched on ClinicalTrials.gov (27 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 2026-07-27

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

18

Drugs / clinical candidates · MONDO_0018689

CTD chemicals (MyDisease.info)

10 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bortezomib · therapeutic
  • Cyclophosphamide · therapeutic
  • Daunorubicin · therapeutic
  • EDAP regimen · therapeutic
  • Melphalan · therapeutic
  • Phenylbutazone · therapeutic
  • Prednisolone · therapeutic
  • Thalidomide · therapeutic
  • VAD protocol · therapeutic
  • Vincristine · therapeutic

MyDisease.info · MONDO:0018689

Literature

Is anyone studying this?

3,388

3,388 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.

3,388 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).

1,853 in the last 10 years · low confidence

Phrase hits: 3,381 · MeSH hits: 12

Open Europe PMC search

Who's working on it?

1,540

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 Y8 papers · 2026

    Department of Hematology, Shaanxi Provincial People's Hospital, Xi'an, China.

    Papers in Europe PMC
  2. 02
    Gay F7 papers · 2026

    Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Torino, Italy

    Papers in Europe PMC
  3. 03
    Liu Y7 papers · 2026

    Department of Hematology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan Province, China.

    Papers in Europe PMC
  4. 04
    Sonneveld P7 papers · 2026

    Department of Hematology, Erasmus Medical Center, Rotterdam, the Netherlands

    Papers in Europe PMC
  5. 05
    Atrash S6 papers · 2026

    Atrium Health Levine Cancer Institute, Wake Forest University School of Medicine, Charlotte, NC, USA.

    Papers in Europe PMC
  6. 06
    Boccadoro M6 papers · 2026

    Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Torino, Italy

    Papers in Europe PMC
  7. 07
    Musto P6 papers · 2026

    Department of Precision and Regenerative Medicine and Ionian Area, “Aldo Moro” University School of Medicine, and Hematology and Stem Cell Transplantation Unit, AOU Consorziale Policlinico, Bari, Italy

    Papers in Europe PMC
  8. 08
    Sborov DW6 papers · 2026

    Division of Hematology and Hematological Malignancies, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.

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

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  10. 10
    Anderson LD Jr5 papers · 2026

    Hematologic Malignancies and Cellular Therapy Program, Simmons Comprehensive Cancer Center, UT Southwestern Medical Center, Dallas, TX, USA. Larry.anderson@utsouthwestern.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

59

interventional trials for this specific condition

59 interventional trials matched this specific condition name; 27 currently recruiting in our sample.

Data as of 9 September 2026

59 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.5th percentile).

low confidence · 97.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 23 · after dedupe 23 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 23 · dropped 0 · fetched 2026-07-27

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 (23)

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 Plasma cell 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.

"Plasma cell leukemia" OR "leukaemia plasmacytic" OR "leukemia plasmacytic" OR "plasmacytic leukaemia" OR "plasmacytic leukemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukemia, Plasma Cell

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

"Plasma cell leukemia" OR "leukaemia plasmacytic" OR "leukemia plasmacytic" OR "plasmacytic leukaemia" OR "plasmacytic leukemia" OR "Leukemia, Plasma Cell"

Interventional trials matched via: phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 59 interventional · 5 observational · 1 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: PCL

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 (3388) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T01:36:11.332Z