Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea
In Vivo. 2022 May-Jun;36(3):1397-1407. doi: 10.21873/invivo.12844.
BACKGROUND/AIM: Targeted next-generation sequencing (NGS) is a well-established technique to detect pathogenic alterations in tumors. Indeed, it is the cornerstone of targeted therapy in precision medicine. We investigated the clinical utility of next-generation sequencing in real-world cases.
We retrospectively selected six representative cancer cases, wherein targeted NGS played a pivotal role in the diagnosis and treatment of patients. Additionally, we analyzed three cases with rare, unusual pathogenic alterations.
Our NGS analysis revealed that four patients had TPR-ROS1, EGFR-RAD51, and NCOA4-RET fusions and MET exon 14 skipping mutation, respectively, which can be treated with targeted therapy. Furthermore, we used NGS as a diagnostic tool to confirm the origin of unknown primary malignant tumors in two cases. Interestingly, NGS also helped us identify the following cases: patients exhibiting BRCA1 and TP53 mutations that exhibited histological and immunohistochemical characteristics consistent with endometrioid carcinoma, patients with high-grade serous carcinoma not possessing a TP53 mutation, and patients with small cell lung cancer with a ERBB2 mutation and displaying no loss of RB1.
We recommend targeted NGS for the diagnoses and targeted therapy of cancer patients.
背景/目的：靶向下一代测序（NGS）是一种成熟的技术，可检测肿瘤中的致病改变。实际上，它是精准医学中靶向治疗的基石。我们研究了下一代测序在真实案例中的临床应用。
我们回顾性选择了六个具有代表性的癌症病例，其中靶向 NGS 在患者的诊断和治疗中发挥了关键作用。此外，我们还分析了三个具有罕见、不寻常的致病改变的病例。
我们的 NGS 分析显示，四名患者分别存在 TPR-ROS1、EGFR-RAD51 和 NCOA4-RET 融合以及 MET 外显子 14 跳跃突变，可接受靶向治疗。此外，我们还将 NGS 用作诊断工具，以确认两个不明原发恶性肿瘤的起源。有趣的是，NGS 还帮助我们识别了以下病例：存在 BRCA1 和 TP53 突变且具有子宫内膜样癌的组织学和免疫组织化学特征的患者、没有 TP53 突变的高级别浆液性癌患者以及存在 ERBB2 突变且 RB1 未缺失的小细胞肺癌患者。
我们建议对癌症患者进行靶向 NGS 诊断和靶向治疗。
