Gene expression signature as an ancillary method in the diagnosis of desmoplastic melanoma

Human Pathology
Loren E ClarkeKlaus J Busam

Abstract

Desmoplastic melanoma (DM) is a rare fibrosing variant of melanoma that can be difficult to diagnose. One of the diagnostic challenges is its distinction from a melanocytic nevus with desmoplasia. Here we investigate the use of a 23-gene signature, which has previously been shown to distinguish benign from malignant melanocytic neoplasms. We assessed 50 cases with a differential diagnostic consideration of DM that underwent gene expression testing. Hematoxylin and eosin-stained sections were reviewed, and the final cohort included 20 DMs, 5 nondesmoplastic melanomas, and 27 desmoplastic melanocytic nevi. Of the 20 DMs, the gene expression score was positive ("likely malignant") in 15 tumors, indeterminate in 1, and negative ("likely benign") in 4. None of the desmoplastic melanocytic nevi were positive. The gene expression score was negative in 24 of the melanocytic nevi and indeterminate in the remaining 3. Nine DMs were also analyzed cytogenetically by single-nucleotide polymorphism (SNP) array. The SNP array revealed chromosomal copy number aberrations consistent with melanoma in 7 DMs and failed to show any aberrations in 2. The results of SNP array analysis and gene expression testing were discordant in 4 cases. Our result...Continue Reading

Citations

Oct 26, 2018·Archives of Pathology & Laboratory Medicine·Jonathan J Lee, Christine G Lian
Apr 23, 2020·The American Journal of Surgical Pathology·Cecilia LezcanoKlaus J Busam
Sep 12, 2020·Personalized Medicine·Loren E ClarkeDavid E Elder
Jun 30, 2018·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Julie D R ReimannKlaus J Busam
May 4, 2021·Frontiers in Medicine·Dekker C DeaconRobert L Judson-Torres
Jun 2, 2021·The British Journal of Dermatology·I Yeh, B C Bastian

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