靶向 NGS 可以快速有效地进行多基因分析并检测黑色素瘤中的关键基因畸变。在这项研究中，我们的目标是使用 Oncomine 焦点测定 (OFA) 描述一系列 87 例黑色素瘤病例的基因改变，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使用的研究结果进行比较一个较小的组合，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。常见的突变基因有 BRAF (29%)、NRAS (28%)、ALK、KIT 和 MAP2K1（各 5%）。 29% 的样本中检测到同时发生的突变，包括 BRAF 与 KIT、CTNNB1、EGFR、ALK、HRAS 或 MAP2K1。 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有显着的统计相关性。对于具有给定基因谱的患者，黑色素瘤生存率和无复发生存率相当，但分期和 LDH 值则不同。这种对分子改变的了解有助于更全面地描述我们的患者特征，并为决定最佳治疗策略提供了相关信息。

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.