【佳學基因靶向藥物基因檢測】初始細胞毒性化療 7 年后通過重新活檢檢測到 RET 融合突變：病例報告

基因檢測一次多少錢及檢測內(nèi)容

參加學術(shù)會議時癌癥腫瘤轉(zhuǎn)移的方法與藥物悉獲《Front Oncol》在 2022 Nov 14;12:1019932.發(fā)表了一篇題目為《RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report》的腫瘤靶向藥物治療基因檢測臨床研究基因解碼。該研究由Kei Morikawa, Hiroshi Handa, Junko Ueno, Hajime Tsuruoka, Takeo Inoue, Naoki Shimada, Junki Koike, Seiji Nakamura, Yoshiharu Sato, Masamichi Mineshita等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調(diào)了基因信息檢測與分析的重要性。

腫瘤基因檢測及靶向藥物治療研究關(guān)鍵詞：

RET融合肺癌,重新活檢病例報告檢測到RET突變,基因突變,重新活檢, selpercatinib。

腫瘤治療檢測基因臨床應用結(jié)果

使用分子靶向藥物實現(xiàn)更好的治療反應和長期預后的個性化醫(yī)療是肺癌治療的常見做法。然而，在找到合適的機構(gòu)進行基因檢測及基因批量測試開始為普能病人使情況下，藥物治療會繼續(xù)進行，而不會檢測到罕見突變。佳學基因收集到一個腫瘤基因檢測報告的病例，該患者為男性年齡為 67 歲的男性，他被診斷患有腺癌 T1cN3M1a，IVA 期。 在7 年前使用 EGFR 突變基因檢測進行的初步篩查和 ALK 免疫組化檢測均為陰性。盡管一線細胞毒性聯(lián)合化療非常有效，而且臨床觀察到原發(fā)病灶逐漸消退。但是在最近的支氣管鏡重新活檢后，通過基因組測試檢測到 RET 融合。此外，佳學基因檢測能夠從 7 年前的胸腔積液細胞塊獲得的 FFPE 標本中確認 RET。隨后給予分子靶向藥物塞爾帕替尼(selpercatinib)，對原發(fā)灶和包括腦轉(zhuǎn)移在內(nèi)的所有轉(zhuǎn)移灶非常有效。腫瘤靶向藥的基因檢測描述了一個 RET 融合陽性肺癌病例，其中分子靶向治療和細胞毒性藥物顯示出強烈的反應，并且長期治療得到很好的維持。 7年未確診的RET融合突變再次活檢標本，二代測序能夠正確診斷。關(guān)鍵詞：RET融合肺癌；重新活檢病例報告檢測到RET突變；基因突變；重新活檢； selpercatinib。

腫瘤發(fā)生與革命國際數(shù)據(jù)庫描述：

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.

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