【广东会GDH基因靶向药物基因检测】携带 BRAF V600E 突变的非小细胞肺癌腹膜癌患者对 Dabrafenib 加曲美替尼的有希望的反应

变异引发的疯基因能医治吗介绍

综述的药物化治疗及药物选择《肿瘤药物的有效及有效性》《Onco Targets Ther》在 2022 Nov 11;15:1369-1374.发表了一篇题目为《Case Reports》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Yuri Yagami, Yoshiro Nakahara, Hideaki Manabe, Hiroki Yamamoto, Sakiko Otani, Takashi Sato, Satoshi Igawa, Masaru Kubota, Jiichiro Sasaki, Katsuhiko Naoki等完成。促进了肿瘤的正确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：

BRAF V600E突变,达拉非尼,肺癌,腹膜癌病,曲美替尼。

肿瘤治疗检测基因临床应用结果

靶向药物研究立项的依据：肺癌患者腹膜转移的预后较差。然而，一些携带特定基因改变的肺癌腹膜转移病例对分子靶向药物有反应。 B-Raf 原癌基因 (BRAF) 突变发生在约 2-4% 的非小细胞肺癌中，其中约一半具有 BRAF V600E 突变。达拉非尼联合抑制 BRAF 和曲美替尼联合抑制下游丝裂原活化蛋白激酶在 BRAF V600E 突变的 NSCLC 患者中显示出疗效。在此，我们报告了一名患有 BRAF V600E 突变的肺癌腹膜癌转移患者对达拉非尼加曲美替尼有反应。病例介绍：一名 67 岁的日本男性从不吸烟者被诊断患有 IA3 期肺腺癌。他接受了胸腔镜左下肺叶切除术，但在手术后 33 个月出现癌症反复并伴有腹膜癌转移。切除标本的 Oncomine Dx 目标测试对 BRAF V600E 突变呈阳性。他开始服用 dabrafenib 150 mg 每天两次和曲美替尼 2 mg 每天一次。他对 dabrafenib/trametinib 治疗有良好的临床反应，腹胀消退。他继续 dabrafenib/trametinib 治疗 7 个月没有疾病进展，没有严重的不良反应。药物指导及病因判断的依据：该病例强调了评估肺癌腹膜转移患者的基因改变并用适当的分子靶向药物治疗的重要性。关键词：BRAF V600E突变;达拉非尼；肺癌；腹膜癌病；曲美替尼。

肿瘤发生与革命国际数据库描述：

Background: The prognosis of peritoneal carcinomatosis in patients with lung cancer is poor. However, some cases of peritoneal carcinomatosis from lung cancer harboring specific gene alterations have responded to molecular targeted drugs. B-Raf proto-oncogene (BRAF) mutations occur in about 2-4% of NSCLCs, with about half of these cases having the BRAF V600E mutation. Concomitant inhibition of BRAF with dabrafenib and inhibition of the downstream mitogen-activated protein kinase with trametinib showed efficacy in NSCLC patients with the BRAF V600E mutation. Herein, we report a patient with peritoneal carcinomatosis from lung cancer with the BRAF V600E mutation who responded to dabrafenib plus trametinib.Case presentation: A 67-year-old Japanese male never-smoker was diagnosed with stage IA3 lung adenocarcinoma. He underwent thoracoscopic left lower lobectomy but developed recurrence of the cancer with peritoneal carcinomatosis 33 months after the operation. An Oncomine Dx target test of the resected specimen was positive for the BRAF V600E mutation. He was started on dabrafenib 150 mg twice per day and trametinib 2 mg once per day. He had a good clinical response to dabrafenib/trametinib therapy with resolution of abdominal distention. He continued dabrafenib/trametinib treatment without disease progression for 7 months, with no severe adverse effects.Conclusion: This case highlights the importance of assessing genetic alterations in lung cancer patients with peritoneal carcinomatosis and treating them with appropriate molecular targeted drugs.Keywords: BRAF V600E mutation; dabrafenib; lung cancer; peritoneal carcinomatosis; trametinib.