Out of the Shadows: Desmoplastic Melanoma Yields to Genomic Interrogation

DMMs are genomically distinct from most nondesmoplastic melanomas.

Desmoplastic melanomas (DMM) pose a classic diagnostic dilemma for clinicians. They tend to be less pigmented and scar-like and are therefore often misdiagnosed, making them particularly dangerous. Shain and colleagues addressed the question of whether DMM might have distinct genomic profiles.

They performed DNA sequencing on 33 DMM and found a high mutational load (62.5 mutations per Mb). Hot-spot mutations in the common drivers of non-DMM cutaneous melanomas, including BRAF^V600 and NRASQ61, were not found. They observed inactivation of tumor suppressor genes, such as TP53, CDKN2A, and NF1, which has also been shown in non-DMM previously.

The authors identified novel recurrent mutations in NFKBIE. This gene encodes a protein that dampens the…

Reviewing Author

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

Out of the Shadows: Desmoplastic Melanoma Yields to Genomic Interrogation

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Reviewing Author