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Soo Park, MD
Soo Park, MD
Posted: Monday, March 24, 2025
According to Ichiro Kinoshita, MD, PhD, of Hokkaido University Hospital, Sapporo, Japan, and colleagues, the prevalence of advanced melanoma is rare in Asian countries, which limits research targeting this patient population. These investigators aimed to bridge this knowledge gap by performing a retrospective study that evaluates real-world outcomes and molecular diagnoses of Japanese patients with advanced melanoma. The results of this trial, which determined comprehensive genome profiling offered little benefit in these patients, were published in JCO Precision Oncology.
“Actionable gene alterations in BRAF, NRAS, NF1, and KIT are common in Japanese patients with melanoma,” concluded the investigators. “However, few patients were treated according to the molecular tumor board recommendations, suggesting there is an unmet need to increase accessibility to gene-matched clinical trials in Japan.”
The study authors retrospectively reviewed the data of 569 patients with melanoma from the Japanese Cancer Genomics and Advanced Therapeutics (C-CAT) national database. Individuals either completed standard anticancer regimens or were expected to undergo treatment; all underwent comprehensive genome profiling. Genomic profiling results were provided by the National Health Insurance and managed by the C-CAT.
A total of 36 participants underwent treatment according to recommendations from the molecular tumor board. Skin melanoma (64%) was the most commonly reported variety, followed by mucosal (28%) and uveal (7%) melanomas. Regarding mutations, BRAF, NRAS, NF1, and KIT aberrations were reported in 25%, 20%, 17%, and 17% of patients, respectively. The majority of NRAS mutations (97%) were actionable, as were 82% of BRAF, 69% of NF1, and 54% of KIT mutations.
Although uveal melanomas did not demonstrate any BRAF V600E or V600K variants, 22% and 2% of skin and mucosal melanomas did. The mean tumor mutational burden among cutaneous melanomas was 4.2 variants per megabase. Of note, those who were treated with BRAF-targeted regimens harbored BRAF amplifications and cell-cycle genes at a higher rate than patients who did not undergo any therapy.
Disclosure: For full disclosures of the study authors, visit ascopubs.org.
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