RARE DISEASERESEARCH ATLAS

ORPHA:454714

Plasma cell leukemia

low confidence

Also known as: PCL

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

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=183) is 38.

3,388 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

1,853 in the last 10 years · low confidence

Is a treatment being tested?

356

trials for this specific condition

356 interventional trials matched this specific condition name; 30 currently recruiting in our sample.

Data as of 26 July 2026

356 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 98.6th percentile).

low confidence · 98.6th percentile (trials denominator)

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.

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

Recruiting interventional trials

Trials testing a treatment from the matched ClinicalTrials.gov set

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

Observational and natural-history studies

29 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

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 below 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" OR "plasma cell neoplasm"

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: 356 interventional · 29 observational · 2 expanded access. Only interventional studies enter the trial headline.

Cross-references (from Mondo): MESH:D007952 UMLS:C0023484 NCIT:C3180

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

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

Report an error for ORPHA:454714