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ORPHA:2023

Undifferentiated pleomorphic sarcoma

medium confidenceDisorder

Also known as: UPS

Publications

13,302

95.6th percentile

Trials

58

Interventional, condition-specific

Researchers

1,229

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (22)

MFH · Storiform-pleomorphic MFH · Storiform-pleomorphic fibrous histiocytoma · Storiform-pleomorphic malignant fibrous histiocytoma · Unclassified Pleomorphic sarcoma (formerly "MFH") · Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma") · adult malignant fibrous histiocytoma · adult unclassified pleomorphic sarcoma · adult undifferentiated pleomorphic sarcoma · fibrous histiocytoma, malignant · fibrous histiocytoma, malignant (morphologic abnormality) · fibroxanthosarcoma · fibroxanthosarcoma (morphologic abnormality) · histiocytoma, fibrous, malignant · malignant fibrous cytoma · malignant fibrous histiocytoma · malignant fibrous histiocytoma of soft tissue and bone · malignant fibrous histiocytoma of the soft tissue and bone · malignant fibroxanthoma · unclassified pleomorphic sarcoma · undifferentiated pleomorphic sarcoma · undifferentiated pleomorphic soft tissue sarcoma

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

    13,302 matched papers (6,323 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Anorexia; Fatigue; Abnormal peritoneum morphology) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    58 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)

9

Associated phenotypes · MONDO:0002142

  • Anorexia
  • Fatigue
  • Abnormal peritoneum morphology
  • Abnormality of the lower limb
  • Soft tissue sarcoma

Showing 5 of 9 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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_0002142

CTD chemicals (MyDisease.info)

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

  • 1-nitropyrene · marker/mechanism
  • 1,3-dinitropyrene · marker/mechanism
  • 1,6-dinitropyrene · marker/mechanism
  • 1,8-dinitropyrene · marker/mechanism
  • 4-nitropyrene · marker/mechanism
  • 4-nitroquinolone-1-oxide · marker/mechanism
  • Benzo(a)pyrene · marker/mechanism
  • nickel sulfide · marker/mechanism

MyDisease.info · MONDO:0002142

Literature

Is anyone studying this?

13,302

13,302 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.

13,302 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).

6,323 in the last 10 years · medium confidence · 95.6th percentile (publications denominator)

Phrase hits: 13,302 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,229

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 X5 papers · 2026

    Health Management Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  2. 02
    Li Y5 papers · 2026

    Shanghai Engineering Research Center of Proton and Heavy Ion Radiation Therapy, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Hayashi K4 papers · 2025

    Department of Orthopaedic Surgery, Kanazawa University, 13-1 Takara-machi, Kanazawa, 920-8641, Japan.

    Papers in Europe PMC
  4. 04
    Zhang L4 papers · 2026

    Department of Radiation Oncology, the First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, Anhui, 230022, People's Republic of China.

    Papers in Europe PMC
  5. 05
    Demura S3 papers · 2025

    Department of Orthopedic Surgery, Graduate School of Medical Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, 920-8640, Japan.

    Papers in Europe PMC
  6. 06
    Fetisov TI3 papers · 2025

    Research Institute of Molecular and Cellular Medicine, Peoples' Friendship University of Russia (RUDN University), 115093 Moscow, Russia.

    Papers in Europe PMC
  7. 07
    Galoaa BM3 papers · 2026

    Orthopaedic Oncology Service, Department of Orthopaedic Surgery, Massachusetts General Hospital, Harvard Medical School, BostonBoston, MA, USA.

    Papers in Europe PMC
  8. 08
    Girgis AG3 papers · 2026

    Orthopaedic Oncology Service, Department of Orthopaedic Surgery, Massachusetts General Hospital, Harvard Medical School, BostonBoston, MA, USA.

    Papers in Europe PMC
  9. 09
    Gonzalez MR3 papers · 2026

    Orthopaedic Oncology Service, Department of Orthopaedic Surgery, Massachusetts General Hospital, Harvard Medical School, BostonBoston, MA, USA.

    Papers in Europe PMC
  10. 10
    Kawai A3 papers · 2025

    Division of Musculoskeletal Oncology and Rehabilitation Medicine, National Cancer Center Hospital, Tokyo, 104-0045, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

58

interventional trials for this specific condition

58 interventional trials matched this specific condition name; 12 currently recruiting in our sample. 1,600 trials are registered for sarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

58 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.4th percentile).

medium confidence · 97.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: sarcoma

1,600

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 Undifferentiated pleomorphic sarcoma — 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.

"Undifferentiated pleomorphic sarcoma" OR "Storiform-pleomorphic MFH" OR "Storiform-pleomorphic fibrous histiocytoma" OR "Storiform-pleomorphic malignant fibrous histiocytoma" OR "Unclassified Pleomorphic sarcoma (formerly MFH)" OR "Unclassified Pleomorphic sarcoma (formerly malignant fibrous histiocytoma)" OR "adult malignant fibrous histiocytoma" OR "adult unclassified pleomorphic sarcoma" OR "adult undifferentiated pleomorphic sarcoma" OR "fibrous histiocytoma, malignant" OR "fibrous histiocytoma, malignant (morphologic abnormality)" OR "fibroxanthosarcoma" OR "fibroxanthosarcoma (morphologic abnormality)" OR "histiocytoma, fibrous, malignant" OR "malignant fibrous cytoma" OR "malignant fibrous histiocytoma" OR "malignant fibrous histiocytoma of soft tissue and bone" OR "malignant fibrous histiocytoma of the soft tissue and bone" OR "malignant fibroxanthoma" OR "unclassified pleomorphic sarcoma" OR "undifferentiated pleomorphic soft tissue sarcoma"

Run this search on Europe PMC

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

"Undifferentiated pleomorphic sarcoma" OR "Storiform-pleomorphic MFH" OR "Storiform-pleomorphic fibrous histiocytoma" OR "Storiform-pleomorphic malignant fibrous histiocytoma" OR "Unclassified Pleomorphic sarcoma (formerly MFH)" OR "Unclassified Pleomorphic sarcoma (formerly malignant fibrous histiocytoma)" OR "adult malignant fibrous histiocytoma" OR "adult unclassified pleomorphic sarcoma" OR "adult undifferentiated pleomorphic sarcoma" OR "fibrous histiocytoma, malignant" OR "fibrous histiocytoma, malignant (morphologic abnormality)" OR "fibroxanthosarcoma" OR "fibroxanthosarcoma (morphologic abnormality)" OR "histiocytoma, fibrous, malignant" OR "malignant fibrous cytoma" OR "malignant fibrous histiocytoma" OR "malignant fibrous histiocytoma of soft tissue and bone" OR "malignant fibrous histiocytoma of the soft tissue and bone" OR "malignant fibroxanthoma" OR "unclassified pleomorphic sarcoma" OR "undifferentiated pleomorphic soft tissue sarcoma"

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: 58 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"sarcoma"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: UPS; MFH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:46:54.536Z