【佳學(xué)基因靶向藥物基因檢測(cè)】在具有MET外顯子 14 跳躍突變的邊緣可切除肺腺癌中對(duì)新輔助沃利替尼的顯著反應(yīng)

基因腫瘤療法說明

開會(huì)學(xué)習(xí)腫瘤的基因組學(xué)特征與治療方案設(shè)計(jì)時(shí)，從《腫瘤基因計(jì)劃》與預(yù)防策略的實(shí)施度，了解到《Front Oncol》在 2022 Oct 27;12:1006634.發(fā)表了一篇題目為《在具有MET外顯子 14 跳躍突變的邊緣可切除肺腺癌中對(duì)新輔助沃利替尼的顯著反應(yīng)》腫瘤靶向藥物治療基因檢測(cè)臨床研究文章。該研究由Jiangfang Tian, Zhen Lin, Yueyun Chen, Yang Fu, Zhenyu Ding等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測(cè)與分析的重要性。

腫瘤基因檢測(cè)及靶向藥物治療研究關(guān)鍵詞：

MET 外顯子 14 跳躍突變 (METex14),非小細(xì)胞肺癌,案例報(bào)告;主要病理反應(yīng),新輔助治療,沃利替尼。

腫瘤治療檢測(cè)基因臨床應(yīng)用結(jié)果

腫瘤基因檢測(cè)結(jié)果中存在間充質(zhì)上皮轉(zhuǎn)化 (MET) 外顯子 14 跳躍突變 (METex14) ，根據(jù)《腫瘤基因檢測(cè)大數(shù)據(jù)分析統(tǒng)計(jì)》，該突變是轉(zhuǎn)移性非小細(xì)胞肺癌 (NSCLC) (3%-4%) 低頻驅(qū)動(dòng)突變，與不良預(yù)后相關(guān)。隨著卡馬替尼、特泊替尼和沃利替尼等選擇性 MET 抑制劑的出現(xiàn)，這些患者的預(yù)后得到顯著改善。在《在具有MET外顯子 14 跳躍突變的邊緣可切除肺腺癌中對(duì)新輔助沃利替尼的顯著反應(yīng)》這一臨床研究，佳學(xué)基因腫瘤靶向藥物基因檢測(cè)病案集報(bào)告了一名 76 歲的男性患者，患有攜帶 METex14 的邊緣可切除的 IIIB 期肺腺癌，他成功地接受了沃利替尼的新輔助治療。觀察到原發(fā)腫瘤縮小了 82%，而在隨后的治好性手術(shù)中，只有 5% 的腫瘤通過病理學(xué)存活。十幾項(xiàng)研究測(cè)試了新輔助免疫療法或免疫化學(xué)療法的有效性，但對(duì)于具有驅(qū)動(dòng)突變的 NSCLC，新輔助靶向治療可能更合適。我們提倡 NSCLC 的新輔助 MET TKI 治療。關(guān)鍵詞：MET 外顯子 14 跳躍突變 (METex14)；非小細(xì)胞肺癌；案例報(bào)告;主要病理反應(yīng)；新輔助治療；沃利替尼。

腫瘤發(fā)生與惡化防止國(guó)際數(shù)據(jù)庫(kù)描述：

Mesenchymal-epithelial transition (MET) exon 14 skipping mutation (METex14) is a low-frequency driver mutation in metastatic non-small cell lung cancer (NSCLC) (3%-4%) and is associated with a poor prognosis. With the advent of selective MET inhibitors such as capmatinib, tepotinib, and savolitinib, the outcome for these patients was significantly improved. Here, we report a 76-year-old male patient with marginally resectable stage IIIB lung adenocarcinoma harboring METex14 who was successfully treated with savolitinib for neoadjuvant therapy. An 82% shrinkage of the primary tumor was observed, and only 5% of the tumor was viable by pathology in the following radical surgery. A dozen of studies tested the efficiency of neoadjuvant immunotherapy or immunochemotherapy, but for NSCLC with driver mutations, neoadjuvant targeted therapy might be more appropriate. We advocated the neoadjuvant MET TKI treatment for NSCLC.Keywords: MET exon 14 skipping mutation (METex14); NSCLC; case report; major pathological response; neoadjuvant therapy; savolitinib.