Epidemiological description of genetic alterations and prognosis in Mexican patients with melanoma: a retrospective cohort

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BACKGROUND: Melanoma is currently the most aggressive skin cancer. It is currently categorized based on mutations that have been studied for their prognostic relevance. OBJECTIVE: Define the epidemiology of mutations in patients with melanoma in Mexico using the Next-Generation Sequencing technology and explore its prognosis utility in terms of prognosis. METHODS: A descriptive, multicentric, analytical, and retrospective study was conducted on sixteen patients with melanoma and NGS. RESULTS: Sixteen patients with nodular, lentiginous acral melanoma, and superficial extension were included. We found sixteen different mutations in the melanoma samples. The most frequent mutation in our population was the BRAF mutation (56.3 %); the CCND1 and NRAS mutations were found in 18.8 %. There was a statistically significant association between NRAS and mortality. Median progression-free survival was 27 months (95 % CI = 6.5-47.42 months) and median overall survival was 40.18 months (95 % CI = 19.03 - 61.3 months). The frequency of the mutations we found is similar to the ones reported in the literature, except for CD274, ROS1, and CDKN2A/B, which are more common in our population. We only found a prognostic value with NRAS, even though there is some evidence of mortality associated with other mutations. CONCLUSION: NGS is a useful tool that can detect multiple mutations in the same patient. Detecting profiles with prognostic values and mutations for targeted therapy is an option for these patients, however, the usefulness of these results must be further studied in larger cohorts.

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