2018 年第 6 期 第 13 卷

表皮生长因子受体和_Kirsten鼠肉瘤基因及棘皮动物微管相关类蛋白4-间变性淋巴瘤激酶融合基因突变在肺腺癌组织中的表达及其临床意义

Expressions and clinical significances of epidermal growth factor receptor gene, Kirsten rat sarcoma gene and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase fusion gene mutation in lung adenocarcinoma

作者：金澄宇王炜琦陈康努尔兰·阿汗麦麦提依明·托合提

英文作者：

单位：830001乌鲁木齐，新疆维吾尔自治区人民医院胸外科（金澄宇、陈康、努尔兰·阿汗），神经外科（麦麦提依明·托合提）；830001乌鲁木齐市妇幼保健院超声科（王炜琦）

英文单位：

关键词：肺腺癌；表皮生长因子受体；Kirsten鼠肉瘤；棘皮动物微管相关类蛋白4-间变性淋巴瘤激酶

英文关键词：

• 摘要：

• 【摘要】目的    评估表皮生长因子受体(EGFR)基因、Kirsten鼠肉瘤（KRAS）基因及棘皮动物微管相关类蛋白4-间变性淋巴瘤激酶（EML4-ALK）融合基因3种肿瘤驱动基因在肺腺癌组织中的表达并分析其临床意义。方法    收集2014年1月至2017年8月在新疆维吾尔自治区人民医院行手术确诊并术后行EGFR、KRAS基因及EML4-ALK融合基因突变检测的172例肺腺癌患者的肺腺癌组织标本。分析3种肿瘤驱动基因突变与临床相关指标的关系。结果    172例患者中共检测到EGFR基因突变者66例（38.4%），病理分型腺泡型、乳头型及贴壁性，年龄≤60岁、女性、男性未吸烟或轻度吸烟、高分化和中分化患者EGFR基因突变率较高（均P＜0.05）；共检测到KRAS基因突变者39例（22.7%），病理分型实体性以及微乳头型、年龄＞60岁、男性、重度吸烟者、低分化患者KRAS基因突变率较高（均P＜0.05）；共检测到EML4-ALK融合基因突变14例（8.1%），年龄≤60岁、男性未吸烟和轻度吸烟、高分化和中分化患者EML4-ALK融合基因突变率较高（均P＜0.05），EML4-ALK融合基因突变与患者病理分型和性别无关（均P>0.05）。172例肺腺癌患者中，1例患者出现EGFR基因与EML4-ALK基因共同突变，1例患者出现KRAS基因与EML4-ALK基因共同突变，未出现EGFR基因与KRAS基因共同突变。结论    患者病理分型、年龄、性别、吸烟状况及肿瘤分化程度与3种肿瘤驱动基因突变有一定的关系，3种肿瘤驱动基因在肺腺癌中很少共同突变。多基因联合作用的肺腺癌患者的抗肿瘤靶向治疗需要更多的研究为临床提供理论依据。

• 【Abstract】Objective    To evaluate the expressions and clinical significances of epidermal growth factor receptor(EGFR) gene, Kirsten rat sarcoma(KRAS) gene and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase(EML4-ALK) fusion gene mutation in lung adenocarcinoma. Methods    Lung cancer tissue specimens were separated from 172 patients diagnosed of lung adenocarcinoma from January 2014 to August 2017 in  People′s Hospital of Xinjiang Uygur Autonomous Region. Gene mutations of EGFR, KRAS and EML4 were tested. Relations among mutation rates of EGFR, KRAS, EML4-ALK and clinical features of lung adenocarcinoma were analyzed. Results    EGFR mutation was detected in 66 patients（38.4%）; EGFR mutation rates of acinar, papillary and lepidic lung adenocarcinoma, younger patients(≤60 years old), female, nonsmoker or light smoker, high-differentiated and moderate-differentiated adenocarcinoma significantly increased(P＜0.05). KRAS mutation was detected in 39 patients（22.7%）; KRAS mutation rates of micropapillary lung adenocarcinoma, older patients(＞60 years old), male, heavy smoker, low-differentiated adenocarcinoma significantly increased(P＜0.05). EML4-ALK mutation was detected in 14 patients（8.1%）; EML4-ALK mutation rates of younger patients(≤60 years old), nonsmoker or light smoker, high-differentiated and moderate-differentiated adenocarcinoma significantly increased(P＜0.05). Among 172 patients, 1 patient had co-mutation of EGFR and EML4-ALK; 1 patients had co-mutation of KRAS and EML4-ALK. Conclusion    Pathological type, age, sex, smoking and tumor differentiation are related to gene mutations of EGFR, KRAS and EML4-ALK; co-mutation of the 3 genes is rare.