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ORPHA:64720

Leiomyosarcoma

low confidenceDisorder

Publications

38,422

Trials

141

Interventional, condition-specific

Researchers

1,298

Distinct authors in sample

Gene link

FH, PTEN

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Leiomyosarcomas · leiomyosarcoma · leiomyosarcoma (excluding uterine leiomyosarcoma) · leiomyosarcoma - not uterine · leiomyosarcoma, malignant

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 identifiedPresent

    Moderate — FH, PTEN

  2. LiteraturePresent

    38,422 matched papers (18,200 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    141 matched on ClinicalTrials.gov (29 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?

Probably — there is moderate evidence for FH, PTEN.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

82

Drugs / clinical candidates · MONDO_0005058

CTD chemicals (MyDisease.info)

20 associated chemicals · 68 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cisplatin · therapeutic
  • Dacarbazine · therapeutic
  • Docetaxel · therapeutic
  • Doxorubicin · therapeutic
  • Etoposide · therapeutic
  • Ifosfamide · therapeutic
  • ME-344 · therapeutic
  • Mesna · therapeutic
  • Paclitaxel · therapeutic
  • Vincristine · therapeutic
  • Vindesine · therapeutic
  • 5-(3-methyl-1-triazeno)imidazole-4-carboxamide · marker/mechanism

Pathways: Arachidonic acid metabolism; Metabolic pathways; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; PI3K-Akt signaling pathway; VEGF signaling pathway; Jak-STAT signaling pathway; Hematopoietic cell lineage

MyDisease.info · MONDO:0005058

Literature

Is anyone studying this?

38,422

38,422 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.

38,422 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).

18,200 in the last 10 years · low confidence

Phrase hits: 37,761 · MeSH hits: 807

Open Europe PMC search

Who's working on it?

1,298

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
    Hayashi T3 papers · 2026

    National Hospital Organization Kyoto Medical Centre, Kyoto, Japan.

    Papers in Europe PMC
  2. 02
    Konishi I3 papers · 2026

    National Hospital Organization Kyoto Medical Centre, Kyoto, Japan.

    Papers in Europe PMC
  3. 03
    Sebio A3 papers · 2026

    Translational Medical Oncology Laboratory, Institut de Recerca Sant Pau (IR Sant Pau), 08041 Barcelona, Spain; (P.C.); (R.T.); (M.A.)

    Papers in Europe PMC
  4. 04
    Xu J3 papers · 2026

    Pathology and Laboratory Medicine.

    Papers in Europe PMC
  5. 05
    Abe Y2 papers · 2026

    Department of Surgery, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Acramel A2 papers · 2026

    Département de Pharmacie, Institut Curie, PSL Research University, Paris, France.

    Papers in Europe PMC
  7. 07
    Aguado M2 papers · 2026

    Translational Medical Oncology Laboratory, Institut de Recerca Sant Pau (IR Sant Pau), 08041 Barcelona, Spain; (P.C.); (R.T.); (M.A.)

    Papers in Europe PMC
  8. 08
    Akgul M2 papers · 2026

    Department of Pathology and Laboratory Medicine, Brigham and Women's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  9. 09
    Arbănași E2 papers · 2026

    Regenerative Medicine Laboratory, Centre for Advanced Medical and Pharmaceutical Research (CCAMF), George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540139 Targu Mures, Romania;

    Papers in Europe PMC
  10. 10
    Arbănași EM2 papers · 2026

    Regenerative Medicine Laboratory, Centre for Advanced Medical and Pharmaceutical Research (CCAMF), George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540139 Targu Mures, Romania.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

141

interventional trials for this specific condition

141 interventional trials matched this specific condition name; 29 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

141 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.9th percentile).

low confidence · 98.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

18 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 15 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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 (14)

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 Leiomyosarcoma — 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.

("Leiomyosarcoma" OR "Leiomyosarcomas" OR "leiomyosarcoma (excluding uterine leiomyosarcoma)" OR "leiomyosarcoma - not uterine" OR "leiomyosarcoma, malignant") OR (MESH:"Leiomyosarcoma") OR ("FH syndrome" OR "FH-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leiomyosarcoma

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

"Leiomyosarcoma" OR "Leiomyosarcomas" OR "leiomyosarcoma (excluding uterine leiomyosarcoma)" OR "leiomyosarcoma - not uterine" OR "leiomyosarcoma, malignant"

Interventional trials matched via: both, 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: 141 interventional · 18 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (38422) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:09:31.016Z