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一名肺腺癌患者表皮生长因子受体基因的两种罕见突变

Two Unusual Mutations in the Epidermal Growth Factor Receptor Gene in a Patient With Lung Adenocarcinoma.

作者信息

Zapata Laguado Martin, Zuluaga Andrea, Parra Medina Rafael, Bruges Ricardo

机构信息

Clinical Oncology, Instituto Nacional de Cancerología, Bogotá, COL.

Pathology, Instituto Nacional de Cancerología, Bogotá, COL.

出版信息

Cureus. 2022 Feb 18;14(2):e22372. doi: 10.7759/cureus.22372. eCollection 2022 Feb.

Abstract

Adenocarcinoma (ADC) of the lung is the most frequent pathology corresponding to non-small cell lung cancer (NSCLC). The advent of target therapy and the discovery of drugs that block signaling pathways related to cellular events involved in the progression of the disease have led to a better prognosis in cases of ADC. Some of the targeted therapy focuses on the blockade of epidermal growth factor receptor (EGFR), targeting mutations in exon 19 and 21, with favorable clinical outcomes. However, there is limited evidence with respect to unusual mutations as in exon 18 (g719x) and 20 (s768). In this report, we present a case of a 65-year-old female with two unusual mutations in the EGFR gene, in exon 18 (g719x) and 20 (s768i), without central nervous system (CNS) involvement; these mutations are typically resistant to standard therapy. We decided to administer osimertinib because of its favorable toxicity profile and with a view to preventing future CNS relapse.

摘要

肺腺癌(ADC)是与非小细胞肺癌(NSCLC)相对应的最常见病理类型。靶向治疗的出现以及能够阻断与疾病进展所涉及的细胞事件相关信号通路的药物的发现,使ADC患者的预后得到了改善。一些靶向治疗聚焦于阻断表皮生长因子受体(EGFR),针对外显子19和21的突变,临床效果良好。然而,关于外显子18(g719x)和20(s768)等不常见突变的证据有限。在本报告中,我们介绍了一例65岁女性患者,其EGFR基因在外显子18(g719x)和20(s768i)存在两种不常见突变,且无中枢神经系统(CNS)受累;这些突变通常对标准治疗耐药。由于奥希替尼具有良好的毒性特征且为预防未来CNS复发,我们决定给予该患者奥希替尼治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c82/8934596/057293a8b5ea/cureus-0014-00000022372-i01.jpg

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