【佳學基因靶向藥物基因檢測】EGFR R776H胚系突變的原發(fā)性肺癌和乳腺癌患者一例并文獻復習

腫瘤檢測的費用大概有多少介紹

研究癌癥的早期發(fā)現及檢測獲悉《Onco Targets Ther》在?2023 Jan 18;16:17-22.發(fā)表了一篇題目為《Case Reports》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Dan Li,?Xin Liu,?SaiQiong Cui,?DaFu Yang,?Yue Zhu,?Evenki Pan,?Peng Yang,?ZhaoXia Dai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鍵詞：

表皮生長因子受體 R776H,吉非替尼,奧希替尼,種系突變,非小細胞肺癌。

腫瘤治療檢測基因臨床應用結果

對于常見表皮生長因子受體 (EGFR) 突變（外顯子 19 缺失或外顯子 21 L858R 突變）的晚期非小細胞肺癌 (NSCLC) 患者，酪氨酸激酶抑制劑 (TKI) 是標準療法。然而，EGFR種系突變在肺癌中極為罕見，有效的治療方法尚不清楚。本研究報告了一名原發(fā)性乳腺癌和肺癌患者攜帶罕見的種系 EGFR R776H 和體細胞 L861Q 突變，該患者受益于 EGFR TKI。她的家族癌癥病史回顧表明，她的四分之三的肺癌姐妹均為 EGFR R776H 陽性。有趣的是，只有她健康的妹妹是O型血，與其他B型血的姐妹不同。我們的研究為生殖細胞 EGFR R776H 和體細胞 L861Q 突變患者的潛在治療選擇提供了有意義的見解，并強調了下一代測序 (NGS) 在發(fā)現罕見基因改變以指導遺傳病預防方面的重要性。關鍵詞：EGFR R776H ;吉非替尼；奧希替尼；種系突變；非小細胞肺癌。

腫瘤發(fā)生與革命國際數據庫描述：

For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor (EGFR) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However,?EGFR?germline mutations are extremely rare in lung cancer, and the effective therapy is unclear. This study reports a patient with primary breast and lung cancer carried rare germline?EGFR?R776H and somatic L861Q mutation, who benefit from EGFR TKIs. Her family cancer history review demonstrated that her three out of four sisters with lung cancer were positive for?EGFR?R776H. Interestingly, only her healthy sister had type O blood, different from other sisters with type B blood. Our study provides a meaningful insight into the potential treatment option for patients with germline?EGFR?R776H and somatic L861Q mutation and highlights the importance of next-generation sequencing (NGS) in discovering rare genetic alterations to guide the prevention of genetic disease.Keywords:?EGFR R776H; Gefitinib; Osimertinib; germline mutation; non-small cell lung cancer.