Clinical Characteristics and Mutation Landscape of Chinese Mucosal Melanoma / 中山大学学报(医学科学版)

ABSTRACT

@#【Objective】 To use next generation sequencing （NGS） for examing 295 gene mutations in Chinese mucosal melanoma，and explore the mutation landscape of Chinese mucosal melanoma for potential therapeutic targets. 【Methods】The specimens were from 25 mucosal melanoma patients from September 2017 to September 2018 in Biotherapy Center，Sun Yat-sen University Cancer Center. Mutations of 295 genes were detected by NGS sequencing in the Department of Molecular Diagnostics in our hospital. 【Results】 The mutation frequency of major driver genes of melanoma was：BRAF 20%（5/25），KIT 20%（5/25），NRAS 12%（3/25），and NF1 8%（2/25），respectively. The most common mutation was an increase copy number in MYC（9/25，36%），followed by an increase in KDR copy number，24%（6/25）. DNA damage repair，cell cycle，PI3K-mTOR，growth factor receptor，MAPK，immune response and WNT/NOTCH related pathways were widely mutated. Mutation rates were 76%（19/25），72%（18/25），56%（14/25），60%（15/25），36%（9/25），28%（7/25），and 24%（6/25），respectively. Multiple therapeutic targets were observed，such as ATM，ATRX，EMSY， FANCI，RAD52，MET，PDGFRA，KDR，FLT4，ALK，ERBB3 and ROS1.【Conclusion】Gene mutations in Chinese mucosal melanoma were different from that of Chinese cutaneous melanoma and that of Caucasians. NGS could provide potential therapeutic targets for the treatment of Chinese mucosal melanoma.