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目的:研究晚期非小细胞肺癌(non-small cell lung cancer,NSCLC)原发灶和转移灶ROS1融合基因阳性率,探讨其相关性。方法:收集2013年1月至2015年5月中国人民解放军北京军区总医院、军事医学科学院附属医院、浙江省肿瘤医院、大连大学附属中山医院和山西医学科学院山西大医院原发灶384例,其中配对转移灶246例,统计得出ROS1融合基因阳性率并分析原发灶与转移灶ROS1融合基因的一致性、ROS1融合基因阳性与临床基线资料间的关系。结果:ROS1融合基因阳性率原发灶为2.60%(10/384)。ROS1融合基因阳性率配对原发灶为2.85%(7/246),配对转移灶为1.63%(4/246),配对的246对原发灶、转移灶组织中,转移灶融合基因阳性而对应的原发灶融合基因阴性1例,原发灶融合基因阳性而对应的转移灶融合基因阴性4例,转移灶较原发灶检出ROS1融合基因阳性率高,两者差别有统计学意义(χ2=52.341,P=0.000);转移灶和原发灶ROS1融合基因阳性的一致率好(κ=0.536,P=0.000),通过转移灶判断原发灶融合阳性的情况,敏感性为42.86%(3/7),特异性为99.58%(238/239)。结论:非小细胞肺癌中转移灶可以预测原发灶ROS1融合基因情况,在难以取得原发灶的情况下转移灶可以作为ROS1融合基因测的备选手段。
OBJECTIVE: To study the positive rate of ROS1 fusion gene in primary and metastatic non-small cell lung cancer (NSCLC) and to investigate its correlation. Methods: From January 2013 to May 2015, 384 cases of primary tumor from PLA General Hospital of Beijing Military Region, Affiliated Hospital of Academy of Military Medical Sciences, Zhejiang Cancer Hospital, Zhongshan Hospital Affiliated to Dalian University and Shanxi University Hospital of Shanxi Medical College were collected. Among them, The positive rate of ROS1 fusion gene was calculated and the relationship between ROS1 fusion gene and ROS1 fusion gene was analyzed. Results: The positive rate of ROS1 fusion gene in primary tumor was 2.60% (10/384). The positive rate of ROS1 fusion gene was 2.85% (7/246) in paired primary and 1.63% (4/246) in paired metastasis, and the paired 246 paired primary and metastatic lesions were positive for metastatic fusion gene Of the primary tumor fusion gene was negative in 1 case, the primary tumor fusion gene was positive and the corresponding metastasis fusion gene was negative in 4 cases. The positive rate of ROS1 fusion gene was higher in the metastasis than the primary tumor, the difference was statistically significant ( (χ2 = 52.341, P = 0.000). The positive rate of ROS1 fusion gene in metastasis and primary tumor was good (κ = 0.536, P = 0.000). The sensitivity of metastasis to primary tumor was 42.86% (3/7) with a specificity of 99.58% (238/239). CONCLUSIONS: Metastasis in non-small cell lung cancer can predict ROS1 fusion gene in primary tumor. Metastasis can be used as an alternative measure of ROS1 fusion gene in cases where it is difficult to obtain primary tumor.