Mutational heterogeneity may be common in melanoma

Source: Healio, August 2020

Mutational heterogeneity was observed in almost 20% of melanoma tumors, according to a study.

“Mutational heterogeneity can contribute to therapeutic resistance in solid cancers,” Gregory A. Chang, MD, of The Ronald O. Perelman Department of Dermatology at New York University School of Medicine, NYU Langone Health, and colleagues wrote. “In melanoma, the frequencies of intertumoral and intratumoral heterogeneity are controversial.”

The researchers used a multiplatform analysis of mutated driver and non-passenger genes to compare mutational heterogeneity in paired primary and metastatic tumors from 60 patients and multiple metastatic tumors from 39 patients with unavailable primary tumors. In total, 271 tumors underwent analysis. SNaPshot assays, Sanger sequencing, mutation-specific PCR or droplet digital PCR were the methods used to determine the presence or absence of BRAFV600, NRASQ61, TERT–124C>T and TERT–146C>T mutations.

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