CAJ | 학술논문

目的：探讨非小细胞肺癌组织中ALK、ROS1和RET融合基因的表达情况及其与临床病理特征的关系。方法应用特异引物即时PCR法及Sanger DNA测序法分别检测302例非小细胞肺癌组织的ALK、ROS1和RET融合基因的表达情况，并与患者临床病理特征进行分析。结果（1）302例非小细胞肺癌患者组织中12例存在ALK基因融合（3.97％，12／302），其中E13；A20、E6；A20、E20；A20基因融合各3例，占总阳性比例的9／12。 ALK融合基因在不同性别、年龄、吸烟史、组织学类型间均差异无统计学意义。（2）在302例患者中12例存在ROS1基因融合（3.97％，12／302），其中9例为CD74-ROS1基因融合；ROS1融合基因在不同性别、年龄、吸烟史、组织学类型间均差异无统计学意义。（3）1例患者检测出RET基因融合，患者为老年女性，腺癌患者，无吸烟史。（4）未发现ALK、ROS1、RET同时突变的患者。结论 ALK、ROS1、RET融合基因在非小细胞肺癌组织中突变率较低，但代表了非小细胞肺癌特定的分子亚型，对指导临床靶向治疗意义重大。
목적：탐토비소세포폐암조직중ALK、ROS1화RET융합기인적표체정황급기여림상병리특정적관계。방법응용특이인물즉시PCR법급Sanger DNA측서법분별검측302례비소세포폐암조직적ALK、ROS1화RET융합기인적표체정황，병여환자림상병리특정진행분석。결과（1）302례비소세포폐암환자조직중12례존재ALK기인융합（3.97％，12／302），기중E13；A20、E6；A20、E20；A20기인융합각3례，점총양성비례적9／12。 ALK융합기인재불동성별、년령、흡연사、조직학류형간균차이무통계학의의。（2）재302례환자중12례존재ROS1기인융합（3.97％，12／302），기중9례위CD74-ROS1기인융합；ROS1융합기인재불동성별、년령、흡연사、조직학류형간균차이무통계학의의。（3）1례환자검측출RET기인융합，환자위노년녀성，선암환자，무흡연사。（4）미발현ALK、ROS1、RET동시돌변적환자。결론 ALK、ROS1、RET융합기인재비소세포폐암조직중돌변솔교저，단대표료비소세포폐암특정적분자아형，대지도림상파향치료의의중대。
Objective To study the prevalence of ALK, ROS1 and RET fusion genes in non-small cell lung cancer (NSCLC), and its correlation with clinicopathologic features.Methods Formalin-fixed and paraffin-embedded tissue sections from samples of 302 patients with NSCLC were screened for ALK, ROS1, RET fusions by real-time polymerase chain reaction ( PCR).All of the cases were validated by Sanger DNA sequencing.The relationship between ALK, ROS1, RET fusion genes and clinicopathologic features were analyzed.Results In the cohort of 302 NSCLC samples, 3.97% ( 12/302 ) were found to contain ALK fusion genes, including 3 cases with E13;A20 gene fusion, 3 cases with E6;A20 gene fusion and 3 cases with E20;A20 gene fusion.There was no statistically significant difference in patient′s gender, age, smoking history and histologic type.Moreover, in the 302 NSCLC samples studied, 3.97%(12/302) were found to contain ROS1 fusion genes, with CD74-ROS1 fusion identified in 9 cases.There was no statistically significant difference in patients′gender, age, smoking history and histologic type.One non-smoking elderly female patient with pulmonary adenocarcinoma had RET gene fusion.None of the cases studied had concurrent ALK, ROS1 and RET mutations.Conclusions The ALK, ROS1 and RET fusion gene mutation rates in NSCLC are low, they represent some specific molecular subtypes of NSCLC.Genetic testing has significant meaning to guide clinical targeted therapy.