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ORPHA:595133

Perivascular epithelioid cell neoplasm

low confidenceDisorder

Also known as: PEComa · Perivascular epithelioid tumour

Publications

3,018

Trials

8

Interventional, condition-specific

Researchers

1,092

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.

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)

neoplasm with perivascular epithelioid cell differentiation · perivascular epithelioid cell neoplasm · perivascular epithelioid cell tumour · tumor with perivascular epithelioid cell differentiation · tumour with perivascular epithelioid cell differentiation

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

    3,018 matched papers (2,030 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Pulmonary lymphangiomyomatosis; Abnormal morphology of female internal genitalia; Seizure) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. rapamycin Source

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (2 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)

37

Associated phenotypes · MONDO:0006359

  • Pulmonary lymphangiomyomatosis
  • Abnormal morphology of female internal genitalia
  • Seizure
  • Pneumothorax
  • Pulmonary infiltrates

Showing 5 of 37 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA rapamycinPerivascular Epithelioid Cell Tumors · 2017-12-21 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0006359

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,018

3,018 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.

3,018 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).

2,030 in the last 10 years · low confidence

Phrase hits: 3,018 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

1,092

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
    Caliò A5 papers · 2026

    Section of Pathology, Department of Diagnostic and Public Health, University of Verona, Verona, Italy.

    Papers in Europe PMC
  2. 02
    Martignoni G5 papers · 2026

    Section of Pathology, Department of Diagnostic and Public Health, University of Verona, Verona, Italy; Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Verona, Italy.

    Papers in Europe PMC
  3. 03
    Michal M5 papers · 2026

    Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Prague.

    Papers in Europe PMC
  4. 04
    Zhang L5 papers · 2026

    Daytime Comprehensive Care Unit, Peking University People's Hospital, Beijing, 100044, P. R. China.

    Papers in Europe PMC
  5. 05
    Agaimy A4 papers · 2026

    Institute of Pathology, Erlangen University Hospital, Friedrich Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center, European Metropolitan Area Erlangen-Nuremberg (CCC ER-EMN), Erlangen, Germany.

    Papers in Europe PMC
  6. 06
    Sangoi AR4 papers · 2026

    Stanford Medical Center, Stanford Health Care, 300 Pasteur Drive, Stanford, CA, 94305, USA. asangoi2@yahoo.com.

    Papers in Europe PMC
  7. 07
    Argani P3 papers · 2026

    Departments of Pathology and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD.

    Papers in Europe PMC
  8. 08
    Cheng L3 papers · 2026

    Department of Pathology and Laboratory Medicine, Department of Surgery (Urology), Brown University Warren Alpert Medical School, the Legorreta Cancer Center at Brown University and Brown University Health, Providence, RI, USA.

    Papers in Europe PMC
  9. 09
    Krcek R3 papers · 2026

    Department of Radiation Oncology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland.

    Papers in Europe PMC
  10. 10
    Li C3 papers · 2026

    Department of Pathology, Qilu Hospital, Shandong University, Jinan, Shandong, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

low confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Perivascular epithelioid cell neoplasm — 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.

"Perivascular epithelioid cell neoplasm" OR "PEComa" OR "Perivascular epithelioid tumour" OR "neoplasm with perivascular epithelioid cell differentiation" OR "perivascular epithelioid cell tumour" OR "tumor with perivascular epithelioid cell differentiation" OR "tumour with perivascular epithelioid cell differentiation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Perivascular Epithelioid Cell Neoplasms

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

"Perivascular epithelioid cell neoplasm" OR "PEComa" OR "Perivascular epithelioid tumour" OR "neoplasm with perivascular epithelioid cell differentiation" OR "perivascular epithelioid cell tumour" OR "tumor with perivascular epithelioid cell differentiation" OR "tumour with perivascular epithelioid cell differentiation" OR "Perivascular Epithelioid Cell Neoplasms"

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

Study-type breakdown: 8 interventional · 1 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 (3018) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:50:30.464Z