Gene Mutation Characteristics and Clinical Prognosis of Head and Neck Mucosal Melanoma

Abstract

Background: As a highly malignant tumor type, the mucosal type is the second most common pathological subtype in China. In this study, we analyzed the results and clinical data for C-KIT, NRAS, PDGFRA and BRAF genotypes in patients, to explore the characteristics of gene mutation in head and neck mucosal melanoma and the correlation between the four common gene mutation types and prognosis.Methods: C-KIT (exons 9, 11, 13, 17 and 18), NRAS (exons 1 and 2), PDGFRA (exons 12, 14 and 18) and BRAF (exons 11 and 15) were analyzed by PCR amplification and Sanger sequencing in patients. The Chi-squared test, Log rank test and Cox regression model were used to analyze the risk factors. Results: In total, 96 patients were included in the study. 14 (14.58%) patients had the C-KIT mutation, 6 (6.25%) had the BRAF mutation, 23 (23.96%) had the PDGFRA mutation, and 12 (12.50%) had the NRAS mutation. The NRAS mutation (P = 0.037, 95%CI: 1.050–4.572) was an independent factor affecting postoperative distant metastasis. The mutation types of different primary tumor sites were different. The BRAF mutation was more common in the nasopharynx and other sites (P = 0.008), whereas the NRAS mutation was more common in the nasal cavity/sinus (P = 0.043).Conclusion: The specificity of this genotype may have some guiding significance for treatment of patients with head and neck mucosal melanoma, but this study did not find any correlation with survival time, and this needs further analysis with a larger dataset.

Impact of Treatment Delay in Head and Neck Mucosal Melanoma on Overall Patient Survival

“…6,8 Five-year survival is estimated to be between 24 and 33%. 5,[8][9][10][11] Older age, higher T stage, nodal metastasis, and distant metastasis are associated with poorer overall survival, and tumor site (specifically nasal cavity and oral cavity) is associated with improved overall survival as compared with paranasal sinus tumors. 5,6,9 Treatment options include surgery in the majority of cases, followed by radiation in approximately one-half of patients.…”

“…5,6,9 Treatment options include surgery in the majority of cases, followed by radiation in approximately one-half of patients. [7][8][9] However, surgery has not been demonstrated to improve overall survival unless negative margins are achieved. [11][12][13] Chemotherapy and immunotherapy are also used, especially in nonsurgical cases.…”

“…Nodal metastasis and distant metastasis are found in approxi-mately 20 to 40% and 30 to 50% of patients, respectively. 6,8 Five-year survival is estimated to be between 24 and 33%. 5,[8][9][10][11] Older age, higher T stage, nodal metastasis, and distant metastasis are associated with poorer overall survival, and tumor site (specifically nasal cavity and oral cavity) is associated with improved overall survival as compared with paranasal sinus tumors.…”