The first case of lung carcinosarcoma harboring in-frame deletions at exon19 in the EGFR gene
The first case of lung carcinosarcoma harboring in-frame deletions at exon19 in the EGFR gene
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DOI：
10.1016/j.lungcan.2013.06.013
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发表时间：
2013-09-01
期刊：
影响因子：
5.3
通讯作者：
Ichinose, Yukito
中科院分区：
文献类型：
--
作者：
Toyokawa, Gouji;Takenoyama, Mitsuhiro;Ichinose, Yukito
表皮生长因子受体（EGFR）基因突变在肺癌，特别是腺癌的发生中起关键作用。然而，据我们所知，在肺癌肉瘤患者中没有发现EGFR突变。我们在此报告的情况下，61岁的女性转介的详细检查左肺肿块阴影。虽然进行了支气管镜检查，但未能做出诊断，因此进行了电视辅助胸腔镜手术以诊断肿瘤。病理学检查显示双相特征，包括腺癌和软骨肉瘤。有趣的是，腺癌和软骨肉瘤成分都被证明在EGFR基因中含有外显子19缺失。虽然癌肉瘤是一种罕见的肺部恶性肿瘤，但应进行致癌驱动因子（如EGFR基因）的遗传分析。(c)2013爱思唯尔爱尔兰有限公司版权所有。
Mutations of the epidermal growth factor receptor (EGFR) gene play a critical role in carcinogenesis of lung cancer, particularly adenocarcinoma. However, to the best of our knowledge, no mutations of the EGFR in patients with lung carcinosarcoma have been identified. We herein report the case of a 61-year-old female referred for a detailed examination of a left pulmonary mass shadow. Although bronchoscopy was performed, it failed to lead to a diagnosis, and video-assisted thoracoscopic surgery was therefore carried out to diagnose the tumor. The pathology revealed biphasic features consisting of both adenocarcinoma and chondrosarcoma. Intriguingly, both the adenocarcinoma and chondrosarcoma components were proven to harbor an exon19 deletion in the EGFR gene. Although carcinosarcoma is a rare malignancy of the lungs, genetic analyses of oncogenic drivers, such as the EGFR gene, should be conducted. (c) 2013 Elsevier Ireland Ltd. All rights reserved.