Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. (9th July 2014)

• Record Type: Journal Article
• Authors: Li, Janet Y.; Berger, Michael F.; Marghoob, Ashfaq; Bhanot, Umesh K.; Toyohara, Jennifer P.; Pulitzer, Melissa P.
• Is Part Of: Journal of cutaneous pathology. Volume 41:Number 8(2014:Sep.)
• Page Start: 663
• Page End: 671
• Publication Date: 2014-07-09
• Subjects: Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.12339
• Languages: English
• ISSNs: 0303-6987

Abstract

<abstract abstract-type="main" id="cup12339-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cup12339-para-0001">Phacomatosis pigmentokeratotica (PPK) is characterized by the co‐existence of epidermal nevi and large segmental speckled lentiginous nevi of the papulosa type. PPK, previously explained as 'twin spot' mosaicism due to the postzygotic crossing‐over of two homozygous recessive mutations, has recently been shown to derive from one postzygotic activating RAS mutation. Epidermal nevi, including those in PPK, are known to give rise to neoplasms such as trichoblastoma and basal cell carcinoma. Within speckled lentiginous nevi, Spitz nevi and melanoma have been well documented. We report a case of PPK with a combined melanocytic and adnexal neoplasm presenting where the nevi conjoined. Using next‐generation sequencing techniques, we were able to identify the same HRAS G13R mutation within both components of the tumor, and to show the absence of additional mutated modifier genes in a panel of 300 cancer‐related genes. Given the genetic findings in this rare tumor‐type, we suggest that this case may be used as a model for understanding the development of biphenotypic neoplasia or intratumoral heterogeneity in some cases.</p> </abstract>