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Journal of the American Academy of Dermatology
Volume 71, n° 6
pages 1127-1136 (décembre 2014)
Doi : 10.1016/j.jaad.2014.08.016
accepted : 10 August 2014
Original Articles

Primary cutaneous perivascular epithelioid cell tumor: A clinicopathological and molecular reappraisal

Yann Charli-Joseph, MD a, b, Andrea Saggini, MD a, b, Swapna Vemula, MS a, Jingly Weier, PhD a, Sonia Mirza, MBBS a, Philip E. LeBoit, MD a, b, c,
a Pathology, University of California San Francisco, San Francisco, California 
b Dermatology, University of California San Francisco, San Francisco, California 
c Helen A. Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California 

Reprint requests: Philip E. LeBoit, MD, Dermatopathology Service, University of California San Francisco, 1701 Divisadero St, Suite 280, San Francisco, CA 94115.

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]).


We analyzed the clinicopathological features of 8 pcPEComas, assayed for DNA copy number changes and for initiating mutations common in melanocytic neoplasms.


pcPEComas were evaluated using immunohistochemistry, comparative genomic hybridization, and DNA sequencing.


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.


Small sample size is a limitation.


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.

The full text of this article is available in PDF format.

Key words : array-based comparative genomic hybridization, cutaneous clear cell myomelanocytic tumor, initiating mutations, mTOR pathway, perivascular epithelioid cell tumor

Abbreviations used : aCGH, MiTF, pcPEComa, PEComa, SMA, TSC, 4EBP1

 Funding sources: None.
 Conflicts of interest: None declared.

© 2014  American Academy of Dermatology, Inc.@@#104156@@