Primary cutaneous perivascular epithelioid cell tumor: a clinicopathological and molecular reappraisal.
J Am Acad Dermatol
; 71(6): 1127-36, 2014 Dec.
Article
in En
| MEDLINE
| ID: mdl-25267378
ABSTRACT
BACKGROUND:
Perivascular epithelioid cell tumor (PEComa) is a rare neoplasm of uncertain histogenesis with a mixed myomelanocytic immunophenotype, rarely arising in the skin (primary cutaneous PEComa [pcPEComa]).OBJECTIVE:
We analyzed the clinicopathological features of 8 pcPEComas, assayed for DNA copy number changes and for initiating mutations common in melanocytic neoplasms.METHODS:
pcPEComas were evaluated using immunohistochemistry, comparative genomic hybridization, and DNA sequencing.RESULTS:
pcPEComas were erythematous nodules, mostly in the lower extremities of women (5/8), composed of large pale-staining epithelioid cells. The patient's age range was 26 to 67 (mean 46) years. The percentages of tumors staining positively were as follows micro-ophthalmia-associated transcription factor, NKI/C3, bcl-1, E-cadherin, and cathepsin K (100%); HMB-45, 4E-binding protein 1, and CD68 (88%); smooth muscle actin and muscle-specific actin (40%); S100 (38%); calponin (20%); desmin (13%); and melan-A, SOX10, and keratin (0%). No chromosomal copy number changes or initiating mutations were identified.LIMITATIONS:
Small sample size is a limitation.CONCLUSIONS:
pcPEComas have a different molecular signature than extracutaneous tumors and are unrelated to tuberous sclerosis. However, the common expression of 4E-binding protein 1 points to a role of the mTOR pathway in their pathogenesis. Because pcPEComas are diagnostically challenging, we propose that micro-ophthalmia-associated transcription factor, NKIC3, smooth muscle actin, desmin, bcl-1, cathepsin K, and 4E-binding protein 1 can be used when evaluating a possible pcPEComa.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Skin Neoplasms
/
Perivascular Epithelioid Cell Neoplasms
Type of study:
Prognostic_studies
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Year:
2014
Type:
Article