1. Clinicopathological relevance of BRAFand SMOmutations in Chinese patients with ameloblastoma
- Author
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Ruixue, Chen, Hexiang, Li, Yali, Hou, Xiangjun, Li, Xu, Sun, Jie, Wang, and Xudong, Zhang
- Abstract
Ameloblastomas are benign tumors associated with recurrence and morbidity. Mutations in the V-Raf murine sarcoma viral oncogene homolog B1 (BRAF) and smoothened (SMO) genes have been identified in ameloblastomas. The mutation rate of BRAFin different regions and mutation sites of SMOremains controversial. This study assesses the relationship between these mutations and clinicopathological features of ameloblastoma in Chinese patients. Ameloblastomas were surgically removed from 30 patients and BRAFgene polymorphisms were detected using DNA sequencing analysis. We also examined the relationship between BRAFor SMOmutations and clinicopathological parameters. BRAFV600E mutation was detected in 18 of 30 ameloblastomas. No significant correlation was found between BRAFV600E mutation and age, sex, location, histologic type, capsular invasion, or tumor recurrence. Five cases carried an SMOT364N mutation in exon 5, whereas six carried an SMOS590 T mutation in exon 10. The SMOmutation rate in patients aged ≤ 20 years was significantly higher than that in patients aged > 20 years. SMOT364N and S590 T mutations were closely related to age and capsular invasion. These findings indicate that BRAFV600E, SMOT364N, and SMOS590 T mutations play important roles in the pathogenesis of ameloblastoma.Key highlightsThe BRAFV600E mutation was highly prevalent in Chinese patients with ameloblastoma.SMOT364N and S590 T mutations are closely related to age and capsular invasion.The BRAFV600E, SMOT364N, and SMOS590 T mutations play important roles in the pathogenesis of ameloblastoma.
- Published
- 2023
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