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肺癌EGFR和EML4-ALK基因突变与临床病理特征的关系 被引量:5

Correlation between the mutations of EGFR and EML4-ALK and clinical pathological features in lung cancer
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摘要 目的探讨肺癌患者标本表皮生长因子受体(EGFR)和棘皮动物微管结合蛋白样4与间变性淋巴激酶融合基因(EML4-ALK)突变与临床病理特征的相关性。方法选取2016年8月至2018年7月间上海市同济大学附属东方医院收治的212例肺癌患者标本,包括腺癌165例和其他组织学类型47例,均采用荧光PCR法检测EGFR和EML4-ALK突变,对EML4-ALK突变阳性的标本行FISH融合基因检测及AB-PAS特殊染色,分析基因突变的特点及与临床病理特征的相关性。结果EGFR总突变率36. 8%(78例),女性高于男性,年龄<60岁者高于≥60岁者,腺癌高于非腺癌患者,与低分化腺癌相比,中、高分化腺癌EGFR突变率更高,差异均有统计学意义(均P <0. 05)。EML4-ALK突变7例,总突变率为3. 3%(7例),年龄<60岁患者阳性率高于≥60岁患者,腺癌高于非腺癌(P <0. 05)。突变主要见于含有细胞内或细胞外黏液成分的腺癌患者。212例标本中,手术标本突变率41. 0%,活检小标本突变率29. 6%,细胞学样本突变率33. 3%,但三者之间差异无统计学意义(P> 0. 05)。结论肺癌EGFR突变率高于EML4-ALK突变率,但两者在临床和病理特征上有一定相似性,女性、年龄较小和腺癌患者更常见。与低分化腺癌相比,中、高分化腺癌EGFR突变率更高,EML4-ALK突变患者一般含小灶细胞内或细胞外黏液成分,但送检标本类型对基因突变无较大影响。 Objective To investigate the correlation between epidermal growth factor receptor(EGFR),echinoderm microtubule-associated-protein-like 4-anaplastic lymphoma kinase(EML4-ALK)in lung cancer patients.Methods A total of 212 sapmples from patients with lung cancer was selected from August 2016 to July 2018 at Oriental Hospital Affiliated to Tongji University were enrolled with adenocarcinoma for 165 samples and 47 of other histological types.EGFR and EML4-ALK mutation status were detected by RT-PCR.FISH and AB-PAS staining were further performed in EML4-ALK positive cases to analyze the characteristics of gene mutation and its correlation with clinical and pathological features.Results The overall mutation rate of EGFR was 36.8%(78 patients),and it was higher in female than in male,in patient<60 years than in patients≥60 years and in patients with adenocarcinoma than in patients with out Adenocarcinoma.Medium and high differentiated adenocarcinoma were more common than low differentiated adenocarcinoma(all P<0.05).EML4-ALK mutation occurred in 7 patients and the overall mutation rate was 3.3%(7 patients).EML4-ALK mutation was higher in patients under 60 than older 60(P<0.05).Moreover,the mutation rate was higher in atients with adenocarcinoma than in patients with out Adenocarcinoma(P<O.05).This was mostly seen in intracellular and extracellular compartments in patients with adenocarcinoma.Of all 212 specimens,the mutation rate of surgical specimens was 40.0%,29.6%for biopsy specimens,and 33.3%for cell samples,but the difference among the three groups was not statistically significant(P>0.05).Conclusion The mutation rate of EGFR in lung cancer is significantly higher than that of EML4-ALK,but the two have some similar clinical pathological features,especially in female,younger and adenocarcinoma patients.Compared to low differentiated adenocarcinoma,medium and high ones had higher EGFR mutation rate.This was mostly seen in intracellular and extracellular compartments in patients with adenocarcinoma.In addition,the specimens type.has little effect on the mution.
作者 邓双双 高慧 王录美 孙小波 肖天羽 高金莉 DENG Shuang-shuang;GAO Hui;WANG Lu-mei;SUN Xiao-bo;XIAO Tian-yu;GAO Jin-li(Department of Pathology,Oriental Hospital Affiliated to Tongji University,Shanghai 200120,China)
出处 《中国肿瘤临床与康复》 2019年第4期396-400,共5页 Chinese Journal of Clinical Oncology and Rehabilitation
关键词 肺腺癌 EGFR EML4-ALK 病理特征 Lung adenocarcinoma EGFR EML4-ALK Pathological characteristics
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