Lee Kyungjong, Um Sang-Won, Jeong Byeong-Ho, Yang Jung Wook, Choi Yoon-La, Han Joungho, Kim Hojoong, Kwon O Jung
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea.
Intern Med. 2016;55(21):3105-3111. doi: 10.2169/internalmedicine.55.6794. Epub 2016 Nov 1.
Objective A mutational analysis of tumor tissue samples is an important part of advanced lung cancer treatment strategies. This study evaluated the efficacy of a triple gene analysis using samples obtained via endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA). Methods Either metastatic lymph nodes or primary lung mass samples obtained by EBUS-TBNA were collected between May 2011 and May 2013. We consecutively analyzed epidermal growth factor receptor (EGFR), V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), and anaplastic lymphoma kinase (ALK) fusion genes using remnant tissue samples. Results A total of 109 patients were diagnosed with non-small cell lung cancer (NSCLC). Of these, 70% were adenocarcinoma, 27% squamous cell carcinoma with NSCLC, and 3% were related to other types of lung cancer. EGFR mutations were detected in 23 cases (21.1%), KRAS mutations in 13 cases (11.9%), and ALK fusion genes in 5 cases (4.9%). The ALK fusion genes could not be analyzed in four cases because of insufficient tissue samples remaining after routine histochemistry and an EGFR/KRAS mutation analysis. We found that small biopsy samples from EBUS-TBNA were adequate for performing a triple gene analysis in 97 patients (96%). ALK fusion protein immunohistochemistry (IHC) was 100% consistent with fluorescence in situ hybridization (FISH). Conclusion Small samples obtained by EBUS-TBNA were found to be sufficient for performing a triple gene analysis following routine histology and IHC. ALK IHC showed a very good concordance with FISH for detecting ALK fusion genes.
目的 肿瘤组织样本的突变分析是晚期肺癌治疗策略的重要组成部分。本研究评估了使用经支气管超声引导下经支气管针吸活检(EBUS-TBNA)获取的样本进行三联基因分析的疗效。方法 收集2011年5月至2013年5月期间通过EBUS-TBNA获取的转移性淋巴结或原发性肺肿块样本。我们使用剩余组织样本连续分析表皮生长因子受体(EGFR)、V-Ki-ras2 Kirsten大鼠肉瘤病毒癌基因同源物(KRAS)和间变性淋巴瘤激酶(ALK)融合基因。结果 共有109例患者被诊断为非小细胞肺癌(NSCLC)。其中,70%为腺癌,27%为NSCLC鳞状细胞癌,3%与其他类型的肺癌有关。23例(21.1%)检测到EGFR突变,13例(11.9%)检测到KRAS突变,5例(4.9%)检测到ALK融合基因。由于常规组织化学和EGFR/KRAS突变分析后剩余组织样本不足,4例无法分析ALK融合基因。我们发现,EBUS-TBNA获取的小活检样本足以对97例患者(96%)进行三联基因分析。ALK融合蛋白免疫组织化学(IHC)与荧光原位杂交(FISH)的一致性为100%。结论 发现EBUS-TBNA获取的小样本足以在常规组织学和IHC后进行三联基因分析。ALK IHC在检测ALK融合基因方面与FISH显示出非常好的一致性。