Cai Yangyang, Wang Xu, Guo Ye, Sun Chao, Xu Yinghui, Qiu Shi, Ma Kewei
Cancer and Stem Cell Center, First Affiliated Hospital, Jilin University, Changchun, Jilin, P.R. China.
Medicine (Baltimore). 2019 Jan;98(1):e13890. doi: 10.1097/MD.0000000000013890.
Comprehensive genomic profiling for non-small cell lung cancer (NSCLC) is likely to identify more patients with rare genetic alterations, including uncommon epidermal growth factor receptor (EGFR) gene mutation.
A 63-year-old Chinese woman who had never smoked visited our lung cancer clinic due to a chronic cough.
The patient was diagnosed with lung adenocarcinoma by transbronchial lung biopsy. An EGFR mutation (exon 20 insertion H773_V774insH, D770_N771insG, V769_D770insASV, D770_N771insSVD) was detected in the biopsy specimen by quantitative real-time PCR.
The patient was treated with osimertinib first, and the progression-free survival (PFS) was 4.4 months. After the disease progressed, the second genetic test of pleural effusion suggesting the EGFR exon 20-ins mutation site changed to A767delinsASVD only. Then the patient was treated with afatinib with informed consent.
The treatment of afatinib in this patient was successful, PFS was 7.4 months.
To our knowledge, EGFR exon 20-ins mutation A767delinsASVD has never been reported, and the successful treatment of afatinib may provide a new therapeutic option for this type of exon 20 insertion mutations.
非小细胞肺癌(NSCLC)的综合基因组分析可能会识别出更多具有罕见基因改变的患者,包括不常见的表皮生长因子受体(EGFR)基因突变。
一名63岁从不吸烟的中国女性因慢性咳嗽就诊于我们的肺癌诊所。
经支气管肺活检诊断为肺腺癌。通过定量实时PCR在活检标本中检测到EGFR突变(外显子20插入H773_V774insH、D770_N771insG、V769_D770insASV、D770_N771insSVD)。
患者首先接受奥希替尼治疗,无进展生存期(PFS)为4.4个月。疾病进展后,对胸腔积液进行的第二次基因检测提示EGFR外显子20插入突变位点仅变为A767delinsASVD。然后在获得知情同意后患者接受阿法替尼治疗。
该患者使用阿法替尼治疗成功,PFS为7.4个月。
据我们所知,EGFR外显子20插入突变A767delinsASVD从未被报道过,阿法替尼的成功治疗可能为这种类型的外显子20插入突变提供一种新的治疗选择。