Actionable Mutation Profile of Sun-Protected Melanomas in South America

Author(s)

Hsieh, Ricardo ; Nico, Marcello M. S. ; Camillo, Claudia M. C. ; Oliveira, Katia K. ; Carraro, Dirce M. ; Sangueza, Martin ; Lourenco, Silvia, V

• Document type: Journal article
• Source: AMERICAN JOURNAL OF DERMATOPATHOLOGY; v. 44, n. 10, p. 7-pg., 2022-10-01.

Abstract

Melanomas that arise in sun-protected sites, including acral and oral mucosal melanomas, are likely under the control of unique, specific mechanisms that lead to mutagenesis through various pathways. In this study, we examined somatic mutations in tumors by targeted sequencing using a custom Ion Ampliseq Panel, comprising hotspots of 14 genes that are frequently mutated in solid tumors. Tumor DNA was extracted from 9 formalin fixation, paraffin-embedded sun-protected melanomas (4 primary oral mucosal melanomas and 5 acral lentiginous melanomas), and we identified mutations in the NRAS, PIK3CA, EGFR, HRAS, ERBB2, and ROSI genes. This study reveals new actionable mutations that are potential targets in the treatment of photo-protected melanomas. Additional studies on more of these melanoma subtypes could confirm our findings and identify new mutations. (AU)

• FAPESP's process: 12/25431-1 - MELANOMAS OF SUN PROTECTED SITES: IMMUNOHISTOCHEMICAL AND PIROSEQUENCING STUDY OF MITF AND C-KIT CASCADES
• Grantee: Ricardo Hsieh
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 13/26923-8 - Melanomas of sun protected sites: immunohistochemical and pirosequencing study of MITF and c-kit cascades
• Grantee: Marcello Menta Simonsen Nico
• Support Opportunities: Regular Research Grants