Ancestry and somatic profile indicate acral melanoma origin and prognosis - PubMed

3 days ago

Acral melanoma is the most common type of melanoma in non-European-descent populations, including Mexicans.
Latin American samples are under-represented in global cancer genomics studies, impacting understanding of cancer risks influenced by ancestry and environment.
Study characterized genome and transcriptome of 123 acral melanoma tumors from 92 Mexican patients, a genetically admixed population.
Fewer mutations in classical driver genes (BRAF, NRAS, NF1) were found compared to other melanoma studies.
Patients with higher European ancestry had increased frequency of BRAF mutations.
Tumors with BRAF mutations showed transcriptional profiles similar to cutaneous non-volar melanocytes, suggesting a distinct cell of origin.
Three expression clusters identified through transcriptional profiling were associated with recurrence-free and overall survival.
The study highlights the importance of including diverse ancestries in cancer genomics research.

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