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Oral mucosal melanoma (OMM) is an aggressive malignant tumor derived from melanocytes in the oral cavity. The genetic etiology of OMM has not been extensively investigated to date. In the present study, the aim was to detect novel gene mutations in patients with OMM. Mutation analysis of KIT, BRAF and NRAS was conducted by polymerase chain reaction. In addition, the relevant literature was searched using the PubMed database, and previous findings were compared with the results of the present study. Among the 9 patients with OMM examined, KIT, BRAF and NRAS mutations were detected, and these mutations were all observed at a frequency of 11.1% (1/9 patients). Notably, a novel FMNL2 mutation in 2 patients with OMM was identified by exome sequencing. In conclusion, the current study observed KIT, BRAF, NRAS and FMNL2 mutations in patients with OMM, which may be of benefit for elucidating the underlying mechanism of OMM pathogenesis.

KIT, NRAS, BRAF and FMNL2 mutations in oral mucosal melanoma and a systematic review of the literature