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Genetic Susceptibility in Adolescents and Young Adults With Melanoma

By: Kayci Reyer
Posted: Thursday, October 4, 2018

According to a study published in the International Journal of Cancer, melanomas in adolescents and young adults share some characteristics with those in older adults while retaining properties unique to this age group. In addition, the investigators noted, ultraviolet radiation (UVR) mutagenic processes appear to play a dominant role in the pathogenesis of melanomas in adolescents and young adults.

A total of 50 patients with stage III or IV cutaneous melanoma, all of whom had developed metastases, were included in the study. The participants were identified as adolescents and young adults, ranging between 10 and 30 years of age at diagnosis. The median age at diagnosis was 20 years. Of the group, 25 patients underwent whole-genome sequencing (WGS), 12 experienced exome data retrieval, and 13 had targeted DNA sequencing performed. The data from these cases were compared with information data from 121 adult cutaneous melanoma cases, gained from WGS.

“Similar to mature adult cutaneous melanomas, melanomas in adolescents and young adults showed a high mutation burden and mutation signatures of UVR damage,” stated Richard Scolyer, MD, of the University of Sydney in Australia, and colleagues. In the WGS cohort of adolescents and young adults, the rate of frequency of somatic mutations in BRAF (96%) and PTEN (36%) were double that seen in adults. In addition, the melanomas in the younger cohort had a “higher proportion of non-UVR–related mutation signatures” than the melanomas in the adults.

“We conclude that [adolescent and young adult] melanomas harbour some of the same molecular aberrations and mutagenic insults occurring in older adults, but in different proportions,” Dr. Scolyer and colleagues stated.

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