Neoplasm with perivascular epithelioid cell differentiation

Summary

Neoplasm with perivascular epithelioid cell differentiation (MONDO:0006359) is a cancer (an umbrella term covering 6 Mondo subtypes) and 6 clinical trials. Top therapeutic interventions include pazopanib and ifosfamide. A subtype of soft tissue neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Umbrella term: 6 Mondo subtypes
• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	neoplasm with perivascular epithelioid cell differentiation
Mondo ID	MONDO:0006359
EFO	EFO:1000464
MeSH	D054973
Orphanet	595133
DOID	DOID:2643
NCIT	C38150
UMLS	C1300127
MedGen	266246
GARD	0022383
Is cancer (heuristic)	yes

Also known as: neoplasm with perivascular epithelioid cell differentiation · PEComa · perivascular epithelioid cell neoplasm · perivascular epithelioid cell tumour · tumor with perivascular epithelioid cell differentiation · tumour with perivascular epithelioid cell differentiation

Disease family

This is a subtype of soft tissue neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › connective and soft tissue neoplasm › soft tissue neoplasm › neoplasm with perivascular epithelioid cell differentiation

Related subtypes (17): synovium neoplasm, central nervous system mesenchymal non-meningothelial tumor, mediastinal mesenchymal tumor, nodular fasciitis, mixed endometrial stromal and smooth muscle tumor, desmoid tumor, congenital epulis, inflammatory myofibroblastic tumor, juvenile hyaline fibromatosis, kaposiform hemangioendothelioma, glomus tumor, Mazabraud syndrome, melanoma of soft tissue, malignant soft tissue neoplasm, soft tissue amyloid neoplasm, fibromyxoid tumor, benign soft tissue neoplasm

Subtypes (6): angiomyolipoma, uterine corpus perivascular epithelioid cell tumor, lymphangiomyoma, lymphangioleiomyomatosis, benign PEComa, lung PEComa

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Sirolimus.

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2/PHASE3	1
PHASE2	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02180867	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery
NCT02834013	PHASE2	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT03190174	PHASE1/PHASE2	COMPLETED	Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers
NCT03967834	Not specified	RECRUITING	Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group
NCT02334930	Not specified	COMPLETED	Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors
NCT03916575	Not specified	UNKNOWN	PEComas: Natural History and Prognostic Factors

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PAZOPANIB	4	3
IFOSFAMIDE	4	1
CHEMBL4068768	0	1
CHEMBL4171277	0	1