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ORPHA:86870

Blastic plasmacytoid dendritic cell neoplasm

high confidenceDisorder

Also known as: BPDCN

Publications

1,877

94.4th percentile

Trials

36

Interventional, condition-specific

Researchers

1,206

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare and highly aggressive myeloid malignancy characterized by predominant cutaneous involvement with concomitant or subsequent bone marrow, lymph node and visceral involvement, as well as central nervous system (CNS) disease. It derives from the precursors of plasmacytoid dendritic cells (pDC).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (12)

CD4+/CD56+ hematodermic neoplasm · agranular CD4+ CD56+ hematodermic neoplasm/tumor · agranular CD4+ natural Killer cell leukaemia · agranular CD4+ natural Killer cell leukemia · blastic NK-cell lymphoma · blastic natural Killer leukemia/lymphoma · blastic plasmacytoid Dendritic cell neoplasm · blastic plasmacytoid dendritic cell neoplasm · early plasmacytoid Dendritic cell leukemia/lymphoma · lymphoblastoid variant of NK-cell lymphoma · monomorphic NK-cell lymphoma · primary cutaneous CD4+/CD56+ hematolymphoid neoplasm

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

    1,877 matched papers (1,433 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    36 matched on ClinicalTrials.gov (14 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,877

1,877 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=5449) is 41.

1,877 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,433 in the last 10 years · high confidence · 94.4th percentile (publications denominator)

Phrase hits: 1,877 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,206

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
    Pemmaraju N24 papers · 2026

    Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address: npemmaraju@mdanderson.org.

    Papers in Europe PMC
  2. 02
    Lane AA15 papers · 2026

    BPDCN Center, Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA. andrew_lane@dfci.harvard.edu.

    Papers in Europe PMC
  3. 03
    Konopleva M11 papers · 2026

    Department of Oncology, Montefiore Einstein Comprehensive Cancer Center, Bronx, New York, USA.

    Papers in Europe PMC
  4. 04
    Liu Y8 papers · 2026

    Shandong Provincial Hospital for Skin Diseases, Shandong First Medical University, Jinan, Shandong, China.

    Papers in Europe PMC
  5. 05
    Herling M6 papers · 2026

    Department of Hematology, Cellular Therapy, and Hemostaseology, University of Leipzig, Leipzig, Germany.

    Papers in Europe PMC
  6. 06
    Stein AS6 papers · 2026

    Department of Hematology and Hematopoietic Cell Transplantation, City of Hope, Duarte, CA, USA.

    Papers in Europe PMC
  7. 07
    Wang X6 papers · 2026

    Department of Pathology, BC Cancer, Vancouver, British Columbia, Canada.

    Papers in Europe PMC
  8. 08
    Angelucci E5 papers · 2025

    Hematology and Cellular Therapy, IRCCS Ospedale Policlinico San Martino, Genova, Italy.

    Papers in Europe PMC
  9. 09
    Deconinck E5 papers · 2026

    Department of Hematology, CHU Besançon, Besançon Cedex, France; INSERM, UMR1098 RIGHT, Franche-Comté University, Établissement Français du Sang, Besançon, France.

    Papers in Europe PMC
  10. 10
    LeBoeuf NR5 papers · 2026

    Department of Dermatology, Brigham and Women's Hospital, Center for Cutaneous Oncology, Dana-Farber/Brigham Cancer Center, Boston, Massachusetts.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

36

interventional trials for this specific condition

36 interventional trials matched this specific condition name; 14 currently recruiting in our sample.

Data as of 27 July 2026

36 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.1th percentile).

high confidence · 96.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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 on the overview but are not added to the query string.

"Blastic plasmacytoid dendritic cell neoplasm" OR "BPDCN" OR "CD4+/CD56+ hematodermic neoplasm" OR "agranular CD4+ CD56+ hematodermic neoplasm/tumor" OR "agranular CD4+ natural Killer cell leukaemia" OR "agranular CD4+ natural Killer cell leukemia" OR "blastic NK-cell lymphoma" OR "blastic natural Killer leukemia/lymphoma" OR "early plasmacytoid Dendritic cell leukemia/lymphoma" OR "lymphoblastoid variant of NK-cell lymphoma" OR "lymphoblastoid variant of the NK-cell lymphoma" OR "monomorphic NK-cell lymphoma" OR "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm"

Run this search on Europe PMC

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

"Blastic plasmacytoid dendritic cell neoplasm" OR "BPDCN" OR "CD4+/CD56+ hematodermic neoplasm" OR "agranular CD4+ CD56+ hematodermic neoplasm/tumor" OR "agranular CD4+ natural Killer cell leukaemia" OR "agranular CD4+ natural Killer cell leukemia" OR "blastic NK-cell lymphoma" OR "blastic natural Killer leukemia/lymphoma" OR "early plasmacytoid Dendritic cell leukemia/lymphoma" OR "lymphoblastoid variant of NK-cell lymphoma" OR "lymphoblastoid variant of the NK-cell lymphoma" OR "monomorphic NK-cell lymphoma" OR "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm"

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: 36 interventional · 4 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 2026-07-27T03:14:36.994Z