Post-mortem Melanocyte Mutations Provide Melanoma Clues

Source: genomeweb, October 2020

NEW YORK – Seemingly normal skin samples may contain cutaneous melanoma-related mutations that may be missed by focusing on risky-looking naevi, or moles, according to a new study focused on ultraviolet light-linked DNA damage patterns.

“It turns out that a multitude of individual cells in so-called normal skin are riddled with mutations associated with melanoma, which are a result of sun exposure,” senior and corresponding author Hunter Shain, a dermatology and cancer researcher at the University of California at San Francisco, said in a statement.

For a paper published in Nature on Wednesday, Shain and his colleagues used targeted DNA sequencing, exome sequencing, single-cell genotyping, or RNA sequencing to assess flow cytometry-sorted melanocyte cells in more than 100 post-mortem skin samples collected at sites from half a dozen deceased individuals with European ancestry between the ages of 63 and 85 years old. They noted that two individuals had a history of melanoma, while four had been skin cancer-free, and the samples considered came from parts of the body with more or less sun exposure.