Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Stephan W JahnBernadette Liegl-Atzwanger

Abstract

Desmoplastic malignant melanoma is a distinct melanoma entity histologically subtyped into mixed and pure forms due to significantly reduced lymph node metastases in the pure form. Recent reports investigating common actionable driver mutations have demonstrated a lack of BRAF, NRAS, and KIT mutation in pure desmoplastic melanoma. In search for alternative driver mutations next generation amplicon sequencing for hotspot mutations in 50 genes cardinal to tumorigenesis was performed and in addition the RET G691S polymorphism was investigated. Data from 21 desmoplastic melanomas (12 pure and 9 mixed) were retrieved. Pure desmoplastic melanomas were either devoid of mutations (50%) or displayed mutations in tumor suppressor genes (TP53, CDKN2A, and SMAD4) singularly or in combination with the exception of a PIK3CA double-mutation lacking established biological relevance. Mixed desmoplastic melanomas on the contrary were frequently mutated (89%), and 67% exhibited activating mutations similar to common-type cutaneous malignant melanomas (BRAF, NRAS, FGFR2, and ERBB2). Separate analysis of morphologically heterogeneous tumor areas in four mixed desmoplastic malignant melanomas displayed no difference in mutation status and RET G691 s...Continue Reading

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Citations

Jan 14, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Noah FrydenlundMeera Mahalingam
Dec 13, 2016·Advances in Anatomic Pathology·Meera Mahalingam
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Jul 20, 2018·The American Journal of Dermatopathology·Carlo CotaLorenzo Cerroni
Nov 18, 2020·The American Journal of Dermatopathology·Michele DonatiDmitry V Kazakov

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