【佳學(xué)基因靶向藥物基因檢測(cè)】EGFR R776H胚系突變的原發(fā)性肺癌和乳腺癌患者一例并文獻(xiàn)復(fù)習(xí)

腫瘤檢測(cè)的費(fèi)用大概有多少介紹

研究癌癥的早期發(fā)現(xiàn)及檢測(cè)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(cè)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(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：

表皮生長(zhǎng)因子受體 R776H,吉非替尼,奧希替尼,種系突變,非小細(xì)胞肺癌。

腫瘤治療檢測(cè)基因臨床應(yīng)用結(jié)果

對(duì)于常見表皮生長(zhǎng)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(xì)胞肺癌 (NSCLC) 患者，酪氨酸激酶抑制劑 (TKI) 是標(biāo)準(zhǔn)療法。然而，EGFR種系突變?cè)诜伟┲袠O為罕見，有效的治療方法尚不清楚。本研究報(bào)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(xì)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(xì)胞 EGFR R776H 和體細(xì)胞 L861Q 突變患者的潛在治療選擇提供了有意義的見解，并強(qiáng)調(diào)了下一代測(cè)序 (NGS) 在發(fā)現(xiàn)罕見基因改變以指導(dǎo)遺傳病預(yù)防方面的重要性。關(guān)鍵詞：EGFR R776H ;吉非替尼；奧希替尼；種系突變；非小細(xì)胞肺癌。

腫瘤發(fā)生與革命國際數(shù)據(jù)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.