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The difficulty in interpreting gene expression profiling in BAP‐negative melanocytic tumors
Author(s) -
Fischer Andrew S.,
High Whitney A.
Publication year - 2018
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13277
Subject(s) - comparative genomic hybridization , medicine , pathology , melanoma , immunohistochemistry , atypia , biology , cancer research , gene , genetics , genome
Background BAP‐negative melanocytic tumors were unrecognized in the medical literature until 2011. While the clinical significance of these tumors is poorly understood, there is concern such lesions represent processes in transition, and malignant degeneration is a concern. We investigated use of a 23‐gene expression profiling (23‐GEP) test for distinction from melanoma with the aim of better characterizing the biologic potential of such tumors. Methods Twenty BAP‐negative melanocytic tumors, subjected to 23‐GEP (Myriad Genetic Laboratories, Inc. [Salt Lake City, Utah]) testing, were retrospectively analyzed. Results Tumors exhibited varying degrees of atypia and aberrant immunohistochemical profiles. 23‐GEP testing revealed a “malignant” genetic signature in four cases, a “benign” signature in 15 cases, and an “indeterminate” signature in one case. Array‐based comparative genomic hybridization (aCGH) testing was performed for two cases with a “malignant” 23‐GEP signature, but the aCGH result conflicted with 23‐GEP, and supported benignity. Conversely, in one case with a “benign” 23‐GEP result, aCGH testing supported assessment as melanoma. Moreover, evolving melanoma could not be wholly excluded by histopathological analysis in 2 “benign” cases. Conclusions BAP‐negative melanocytic tumors remain a diagnostic dilemma for dermatopathologists. A widely marketed 23‐GEP test may not be useful in distinguishing these tumors from spitzoid melanoma, at least in comparison to aCGH technology.