PDF(Pubmed)
Abstract：
Targeted NGS allows a fast and efficient multi-gene analysis and the detection of key gene aberrations in melanoma. In this study, we aim to describe the genetic alterations in a series of 87 melanoma cases using the oncomine focus assay (OFA), relate these results with the clinicopathological features of the patients, and compare them with our previous study results in which we used a smaller panel, the oncomine solid tumor (OST) DNA kit. Patients diagnosed with advanced melanoma at our center from 2020 to 2022 were included and DNA and RNA were extracted for sequencing. Common mutated genes were BRAF (29%), NRAS (28%), ALK, KIT, and MAP2K1 (5% each). Co-occurring mutations were detected in 29% of the samples, including BRAF with KIT, CTNNB1, EGFR, ALK, HRAS, or MAP2K1. Amplifications and rearrangements were detected in 5% of cases. Only BRAF mutation showed a significant statistical association with sun exposure. For patients with a given genetic profile, the melanoma survival and recurrence-free survival rates were equivalent, but not for stage and LDH values. This expanded knowledge of molecular alterations has helped to more comprehensively characterize our patients and has provided relevant information for deciding the best treatment strategy.
摘要：
靶向NGS允许快速有效的多基因分析和黑素瘤中关键基因畸变的检测。在这项研究中,我们的目的是描述一系列87例黑色素瘤病例的遗传改变，使用oncominefocus测定法（OFA），将这些结果与患者的临床病理特征联系起来，并将它们与我们之前的研究结果进行比较，我们使用了一个较小的小组，oncomine实体瘤(OST)DNA试剂盒。纳入2020年至2022年在我们中心诊断为晚期黑色素瘤的患者，并提取DNA和RNA进行测序。常见的突变基因是BRAF（29%），NRAS（28%），ALK,KIT,和MAP2K1(各5%)。在29%的样本中检测到共存突变，包括BRAF和KIT,CTNNB1,EGFR,ALK,HRAS,或MAP2K1。在5%的病例中检测到扩增和重排。只有BRAF突变显示出与阳光照射的显着统计关联。对于具有给定遗传特征的患者，黑色素瘤生存率和无复发生存率相当，但不适用于阶段和LDH值。这种对分子改变的扩展知识有助于更全面地表征我们的患者，并为确定最佳治疗策略提供了相关信息。
