Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo, Brazil.
Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
Am J Dermatopathol. 2022 Oct 1;44(10):741-747. doi: 10.1097/DAD.0000000000002213. Epub 2022 May 4.
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 ROS1 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.
发生在防晒部位的黑色素瘤，包括肢端和口腔黏膜黑色素瘤，可能受到独特的、特定的机制控制，这些机制通过各种途径导致突变。在这项研究中，我们通过靶向测序使用定制的 Ion Ampliseq 面板检测肿瘤中的体细胞突变，该面板包含在实体瘤中经常发生突变的 14 个基因的热点。从 9 例福尔马林固定、石蜡包埋的防晒黑色素瘤（4 例原发性口腔黏膜黑色素瘤和 5 例肢端雀斑样黑色素瘤）中提取肿瘤 DNA，我们鉴定出 NRAS 、 PIK3CA 、 EGFR 、 HRAS 、 ERBB2 和 ROS1 基因的突变。这项研究揭示了新的可操作突变，这些突变可能成为治疗防晒黑色素瘤的潜在靶点。对更多这些黑色素瘤亚型的进一步研究可以证实我们的发现并鉴定新的突变。
