【佳学基因靶向药物基因检测】初始细胞毒性化疗 7 年后通过重新活检检测到 RET 融合突变：病例报告

基因检测一次多少钱及检测内容

参加学术会议时癌症肿瘤转移的方法与药物悉获《Front Oncol》在 2022 Nov 14;12:1019932.发表了一篇题目为《RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report》的肿瘤靶向药物治疗基因检测临床研究基因解码。该研究由Kei Morikawa, Hiroshi Handa, Junko Ueno, Hajime Tsuruoka, Takeo Inoue, Naoki Shimada, Junki Koike, Seiji Nakamura, Yoshiharu Sato, Masamichi Mineshita等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

RET融合肺癌,重新活检病例报告检测到RET突变,基因突变,重新活检, selpercatinib。

肿瘤治疗检测基因临床应用结果

使用分子靶向药物实现更好的治疗反应和长期预后的个性化医疗是肺癌治疗的常见做法。然而，在找到合适的机构进行基因检测及基因批量测试开始为普能病人使情况下，药物治疗会继续进行，而不会检测到罕见突变。佳学基因收集到一个肿瘤基因检测报告的病例，该患者为男性年龄为 67 岁的男性，他被诊断患有腺癌 T1cN3M1a，IVA 期。 在7 年前使用 EGFR 突变基因检测进行的初步筛查和 ALK 免疫组化检测均为阴性。尽管一线细胞毒性联合化疗非常有效，而且临床观察到原发病灶逐渐消退。但是在最近的支气管镜重新活检后，通过基因组测试检测到 RET 融合。此外，佳学基因检测能够从 7 年前的胸腔积液细胞块获得的 FFPE 标本中确认 RET。随后给予分子靶向药物塞尔帕替尼(selpercatinib)，对原发灶和包括脑转移在内的所有转移灶非常有效。肿瘤靶向药的基因检测描述了一个 RET 融合阳性肺癌病例，其中分子靶向治疗和细胞毒性药物显示出强烈的反应，并且长期治疗得到很好的维持。 7年未确诊的RET融合突变再次活检标本，二代测序能够正确诊断。关键词：RET融合肺癌；重新活检病例报告检测到RET突变；基因突变；重新活检； selpercatinib。

肿瘤发生与革命国际数据库描述：

Personalized medicine, utilizing molecular-targeted drugs to improve therapeutic response and long-term prognosis, has become standard in the treatment of lung cancer. However, in cases predating the availability of gene batch tests, medical treatment proceeded without detecting rare mutations. We present the case of a sixty-seven-year-old man diagnosed with adenocarcinoma T1cN3M1a, stage IVA. Initial screening conducted 7 years ago, using EGFR mutation and ALK immunohistochemical tests, yielded negative results. Although first-line cytotoxic combination chemotherapy proved remarkably effective, a gradual regression of the primary lesion was observed. Subsequent bronchoscopic re-biopsy identified RET fusion through gene panel testing. Additionally, RET was confirmed in FFPE specimens obtained from pleural effusion cell blocks collected 7 years ago. Administration of the molecular-targeted drug selpercatinib following the diagnosis displayed high efficacy in treating the primary lesion and all metastatic lesions, including brain metastases. We present a case of RET fusion-positive lung cancer, where molecular targeted therapy and cytotoxic drugs elicited a significant response, leading to long-term therapy maintenance. Next-generation sequencing accurately diagnosed the RET fusion mutation using the re-biopsy specimen, which had gone undiagnosed for 7 years. Keywords: RET fusion lung cancer; case report on RET mutation detected through re-biopsy; gene mutation; re-biopsy; selpercatinib.