Chen Dong, Li Xing-Liang, Wu Biao, Zheng Xiao-Bin, Wang Wen-Xian, Chen Hua-Fei, Dong Yi-Yu, Xu Chun-Wei, Fang Mei-Yu
Department of Pathology, Zhejiang Rongjun Hospital, Jiaxing, China.
Department of Tumor Molecular Laboratory, Zhejiang Rongjun Hospital, Jiaxing, China.
Front Oncol. 2020 Jun 16;10:867. doi: 10.3389/fonc.2020.00867. eCollection 2020.
Oncogenic mutations in the epidermal growth factor receptor () occur frequently in patients with lung cancer. These mutations may serve as critical predictive biomarkers in patients with non-small cell lung cancer (NSCLC). Among them, exon 18-25 kinase domain duplication (-KDD) mutations have been identified as a novel gene subtype in NSCLC. We reported a rare case of a 59-year-old male diagnosed with adenocarcinoma. A biopsy revealed an -KDD identified by the next generation sequencing (NGS). Effective treatment outcome has been observed after administration with afatinib. This case highlights that comprehensive NGS technique is valuable in detecting novel genetic mutations in tumors.
表皮生长因子受体()的致癌突变在肺癌患者中频繁发生。这些突变可能是非小细胞肺癌(NSCLC)患者的关键预测生物标志物。其中,外显子18 - 25激酶结构域重复(-KDD)突变已被确定为NSCLC中的一种新型基因亚型。我们报告了一例罕见病例,一名59岁男性被诊断为腺癌。活检显示通过下一代测序(NGS)鉴定出-KDD。给予阿法替尼后观察到了有效的治疗效果。该病例突出了全面的NGS技术在检测肿瘤新基因突变方面的价值。