摘要目的：探讨肺腺癌中ROS1融合基因的存在情况及肺腺癌的临床病理特征。方法采用即时荧光PCR法对369例已知表皮生长因子受体（ EGFR ）突变状态的肺腺癌手术切除标本进行ROS1融合基因检测，分析ROS1融合基因与患者临床病理特征的关系，并应用直接测序法对其中16例阳性病例和20例阴性病例进行验证。结果369例肺腺癌组织中，16例（4.3％，16／369）存在ROS1融合基因；ROS1融合基因与患者性别、年龄、吸烟史、肿块位置、大小、组织学亚型、分化程度、T分期、淋巴结转移、TNM分期及EGFR突变状态均无关（ P均＞0.05）。其中女性患者ROS1融合基因阳性率（4.4％，8／183）与男性（4.3％，8／186）相近，差异无统计学意义（P＝0.973）；年龄≤60岁患者的ROS1融合基因阳性率（5.1％，10／195）高于＞60岁患者（3.4％，6／174），非吸烟者的ROS1融合基因阳性率（4.4％，14／318）略高于吸烟者（3.9％，2／51），差异均无统计学意义（P＞0.05）。阳性、阴性病例的直接测序表明ROS1融合基因阳性检出率与实时荧光PCR法结果一致，总体符合率为100％。结论 ROS1融合基因在青年、非吸烟患者中较为多见，可以与EGFR突变共存，代表了一类新的肺腺癌分子亚型。

abstractsObjective To detect the presence of ROS1 fusion gene in pulmonary adenocarcinoma and its clinicopathologic parameters.Methods Fluorescence RT-PCR was used to detect the presence of ROS1 fusion gene in 369 surgical resection samples of pulmonary adenocarcinoma with known EGFR mutation status.The presence of ROS1 fusion gene in correlation with clinicopathologic features was analyzed.Sixteen positive and 20 negative samples by RT-PCR were further confirmed by direct sequencing.Results ROS1 fusion gene was detected in 16 of 369 lung adenocarcinoma samples (4.3%).The presence of ROS1 fusion gene was not correlated to gender, age, smoking history, tumor site, size, histological subtype, tumor differentiation, T staging, lymph node metastasis, TNM staging and EGFR mutation ( P>0.05).The frequency of ROS1 fusion gene was similar in female and male patients,4.4%(8/183) vs 4.3%(8/186) , P>0.05.The presence of ROS1 fusion gene in patients of ≤60 years of age was higher than that in patients of >60 years,5.1%(10/195) vs 3.4%(6/174), P>0.05.The rate of ROS1 fusion gene of non-smokers was a slight higher than that of smokers, 4.4% ( 14/318 ) vs 3.9%( 2/51 ) , P>0.05.Both positive and negative cases were confirmed by direct sequencing in all cases.Conclusions ROS1 fusion gene occurs more frequently in younger and non-smoking patients of pulmonary adenocarcinoma, and may coexist with EGFR mutations.ROS1 fusion gene seems to define a distinct subset of pulmonary adenocarcinoma.