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ORPHA:83469

Desmoplastic small round cell tumor

low confidenceDisorder

Also known as: DSRCT

Publications

3,147

Trials

37

Interventional, condition-specific

Researchers

1,388

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

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 (9)

Desmoplas. small round cell tumor · Desmoplas. small round cell tumour · Desmoplastic small round cell tumour · Desmoplastic small round-cell neoplasm · Desmoplastic small round-cell tumor · Desmoplastic small round-cell tumour · Polyphenotypic small round cell tumor · Polyphenotypic small round cell tumour · desmoplastic small round cell tumor

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.”

3/6 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

    3,147 matched papers (1,856 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Ascites; Weight loss; Anemia) Source

  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

    37 matched on ClinicalTrials.gov (12 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)

18

Associated phenotypes · MONDO:0019373

  • Ascites
  • Weight loss
  • Anemia
  • Nausea and vomiting
  • Abnormal peritoneum morphology

Showing 5 of 18 — 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)

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

41

Drugs / clinical candidates · MONDO_0019373

CTD chemicals (MyDisease.info)

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

  • Cyclophosphamide · therapeutic
  • Doxorubicin · therapeutic
  • Etoposide · therapeutic
  • Ifosfamide · therapeutic
  • Vincristine · therapeutic

MyDisease.info · MONDO:0019373

Literature

Is anyone studying this?

3,147

3,147 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.

3,147 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).

1,856 in the last 10 years · low confidence

Phrase hits: 3,147 · MeSH hits: 60

Open Europe PMC search

Who's working on it?

1,388

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
    Chen Y7 papers · 2026

    Department of Oncology, Nanjing Pukou People's Hospital, Liangjiang Hospital, Southeast University, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  2. 02
    Liu Y7 papers · 2026

    College of Clinical Medicine, Xuzhou Medical University, Xuzhou, China.

    Papers in Europe PMC
  3. 03
    Wang J7 papers · 2026

    Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China.

    Papers in Europe PMC
  4. 04
    Ferrari A6 papers · 2026

    Pediatric Oncology Unit, Department of Cancer Medicine, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Casanova M5 papers · 2026

    Pediatric Oncology Unit, Department of Cancer Medicine, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy.

    Papers in Europe PMC
  6. 06
    Pasquali S5 papers · 2026

    Molecular Pharmacology Unit, Department of Experimental Oncology, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy.

    Papers in Europe PMC
  7. 07
    Zhang H5 papers · 2026

    Department of Pathology and Laboratory Medicine, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA, USA.

    Papers in Europe PMC
  8. 08
    Zhang J5 papers · 2026

    Department of Oncology, The Affiliated Hospital, Southwest Medical University, Luzhou, 646000, Sichuan Province, China. Electronic address: zhangjianwen66@126.com.

    Papers in Europe PMC
  9. 09
    Zhang Y5 papers · 2026

    Department of Oncology, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei 434000, P.R. China.

    Papers in Europe PMC
  10. 10
    Dermawan JK4 papers · 2026

    Department of Pathology and Laboratory Medicine, Diagnostic Institute, Cleveland Clinic, Cleveland, OH, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 12 currently recruiting in our sample.

Data as of 11 September 2026

37 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.5th percentile).

low confidence · 96.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

37 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (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 Desmoplastic small round cell tumor — 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.

"Desmoplastic small round cell tumor" OR "DSRCT" OR "Desmoplas. small round cell tumor" OR "Desmoplas. small round cell tumour" OR "Desmoplastic small round cell tumour" OR "Desmoplastic small round-cell neoplasm" OR "Desmoplastic small round-cell tumor" OR "Desmoplastic small round-cell tumour" OR "Polyphenotypic small round cell tumor" OR "Polyphenotypic small round cell tumour"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Desmoplastic Small Round Cell Tumor

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

"Desmoplastic small round cell tumor" OR "DSRCT" OR "Desmoplas. small round cell tumor" OR "Desmoplas. small round cell tumour" OR "Desmoplastic small round cell tumour" OR "Desmoplastic small round-cell neoplasm" OR "Desmoplastic small round-cell tumor" OR "Desmoplastic small round-cell tumour" OR "Polyphenotypic small round cell tumor" OR "Polyphenotypic small round cell tumour"

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

Study-type breakdown: 37 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

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 (3147) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:37:35.865Z