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ORPHA:31112

Dermatofibrosarcoma protuberans

medium confidenceDisorder

Also known as: DFSP

Publications

6,246

92.7th percentile

Trials

14

Interventional, condition-specific

Researchers

1,099

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).

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 (2)

dermatofibrosarcoma · dermatofibrosarcoma protuberans

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.”

4/6 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

    6,246 matched papers (3,275 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Subcutaneous nodule; Fibrosarcoma; Pain) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 FDA · 1 EMA designations (none yet with FDA orphan-indication approval) — e.g. imatinib mesilate Source

  6. Interventional trialPresent

    14 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:0011934

  • Subcutaneous nodule
  • Fibrosarcoma
  • Pain
  • Lymphadenopathy
  • Thickened skin

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA imatinib mesilateTreatment of dermatofibrosarcoma protuberans · 26/08/2005 · ExpiredEMA designation
  • FDA imatinib mesylate (Gleevec)Dermatofibrosarcoma Protuberans · 2005-12-19

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0011934

CTD chemicals (MyDisease.info)

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

  • Clofibrate · marker/mechanism

MyDisease.info · MONDO:0011934

Literature

Is anyone studying this?

6,246

6,246 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.

6,246 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).

3,275 in the last 10 years · medium confidence · 92.7th percentile (publications denominator)

Phrase hits: 6,246 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,099

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 Y5 papers · 2026

    Department of Pathology and Laboratory Medicine, Rhode Island Hospital and Lifespan Medical Center, Warren Alpert Medical School of Brown University, Providence, RI, USA. Yihong_wang@brown.edu.

    Papers in Europe PMC
  2. 02
    Alam M3 papers · 2026

    Departments of Dermatology and Dermatologic Surgery, Northwestern Medicine Feinberg School of Medicine, Chicago, IL.

    Papers in Europe PMC
  3. 03
    Charville GW3 papers · 2026

    Department of Pathology, Stanford University, Stanford, CA, USA.

    Papers in Europe PMC
  4. 04
    Cloutier JM3 papers · 2026

    Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.

    Papers in Europe PMC
  5. 05
    Frohm ML3 papers · 2026

    University of South Dakota Sanford School of Medicine.

    Papers in Europe PMC
  6. 06
    Jiang H3 papers · 2026

    Department of Pathology, the Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

    Papers in Europe PMC
  7. 07
    Kedous S3 papers · 2025

    ENT Head & Neck Surgery Department, Salah Azaiz Institute, Tunis, Tunisia.

    Papers in Europe PMC
  8. 08
    Kelly JH3 papers · 2026

    University of South Dakota Sanford School of Medicine.

    Papers in Europe PMC
  9. 09
    Xu Z3 papers · 2026

    Department of Population Health Sciences, Weill Cornell Medicine, New York, USA.

    Papers in Europe PMC
  10. 10
    Zhang J3 papers · 2026

    Department of Plastic and Cosmetic Surgery, Daping Hospital, Army Medical University, No.10 Changjiang Branch Street, Yuzhong District, Chongqing, 40042, China.

    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; 3 currently recruiting in our sample.

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).

medium 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.

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Dermatofibrosarcoma protuberans — 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.

"Dermatofibrosarcoma protuberans" OR "dermatofibrosarcoma"

Run this search on Europe PMC

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

"Dermatofibrosarcoma protuberans" OR "dermatofibrosarcoma"

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 · 2 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

Synonyms dropped by stoplist: DFSP

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

Ingested 2026-07-26T23:27:07.152Z