Perivascular epithelioid cell neoplasm
Synonyms: PEComa · Perivascular epithelioid tumour
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perivascular epithelioid cell neoplasm | PEComa · Perivascular epithelioid tumour |
| fr | Tumeur des cellules épithélioïdes périvasculaires | PECome · Tumeur à cellules épithélioïdes périvasculaires |
| de | Perivaskuläre epitheloidzellige Neoplasie | PECom · Perivaskulärer epitheloidzelliger Tumor |
| es | Neoplasia de células epitelioides perivasculares | Tumor epitelioide perivascular |
| it | Neoplasia delle cellule epitelioidi perivascolari | Tumore epitelioide perivascolare · PEComa |
| nl | Neoplasma van perivasculaire epithelioïde cellen | PECoom · Perivasculaire epithelioïdeceltumor |
| pt | Neoplasia de células epitelióides perivascular | PEComa · Tumor epitelióide perivascular |
| pl | Nowotwór z nabłonkowatych komórek przynaczyniowych | Guz z nabłonkowatych komórek przynaczyniowych |
| cs | Perivaskulární epiteloidní buněčný novotvar | = en |
| uk | Периваскулярне епітеліоїдне клітинне новоутворення | PEComa · Периваскулярна епітеліоїдна пухлина |
| zh | Perivascular epithelioid cell neoplasm | = en |
| tr | Perivascular epithelioid cell neoplasm | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D21.9 | NTBT | attributed | validated |
| ICD-11 | 2F7C | NTBT | attributed | validated |
| ICD-11 | XH4CC6 | BTNT | specific | validated |
| ICD-11 | XH9WD1 | BTNT | specific | validated |
| MONDO | 0006359 | E | validated | |
| MeSH | D054973 | E | validated | |
| UMLS | C1300127 | E | validated | |
| MedDRA | 10085067 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/595133
- This record as JSON: /data/d/595133.json