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ORPHA:64720

Leiomyosarcoma

low confidenceDisorder

Publications

37,761

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

    37,761 matched papers (17,696 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

    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)

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?

37,761

37,761 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=5449) is 41.

37,761 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).

17,696 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 27 July 2026

141 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; 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.

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.

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

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" OR "FH"

Recall-expansion terms: FH

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, recall-expansion; 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 (37761) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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