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Ⅳ期维吾尔族NSCLC患者中KIF5B-RET和EML4-ALK融合基因的表达及生存分析
作者:俞婷婷  薛淑萍  贾存东  王若峥 
单位:新疆医科大学附属肿瘤医院肿瘤内科  新疆维吾尔自治区 乌鲁木齐 830011 
关键词: 非小细胞肺/病理学 基因融合 突变 基因 erbB-1 原癌基因 基因表达 维吾尔族 
DOI:R734.2;R730.23
出版年,卷(期):页码:2018,33(1):47-53
摘要:

目的 探讨新疆维吾尔自治区无EGFR突变的Ⅳ期维吾尔族NSCLC患者中kinesin family member 5B(KIF5B)-rearranged during transfection(RET)融合基因和棘皮动物微管相关类蛋白4(echinoderm microtubule-associated protein-like 4,EML4)-间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)融合基因的阳性率及其临床病理特征,并进行生存分析。方法 分别采用RT-PCR/Sanger DNA测序法和FISH法/Ventana全自动免疫组织化学法检测90例非EGFR基因突变的Ⅳ期NSCLC维吾尔族患者中KIF5B-RET融合基因和EML4-ALK融合基因的表达情况,并进行随访。结果 90例无EGFR突变的Ⅳ期NSCLC患者中,检测到KIF5B-RET融合基因6例(6.7%),EML4-ALK融合基因12例(13.3%),病理类型均为腺癌。KIF5B-RET和EML4-ALK融合基因阳性率在病理类型方面比较,差异均具有统计学意义(均P<0.05),而在性别、年龄、吸烟史、有无淋巴结转移及分化程度方面比较,差异均无统计学意义(均P>0.05)。生存分析显示,KIF5B-RET融合基因阳性的患者与阴性患者中位总生存期比较,差异无统计学意义(17.5个月vs 15.8个月,P>0.05);EML4-ALK融合基因阳性的患者与阴性患者中位总生存期比较,差异无统计学意义(17.3个月vs 16.2个月,P>0.05)。结论 对无EGFR突变的患者,KIF5B-RET与EML4-ALK基因融合突变状态尚不能作为评估Ⅳ期维吾尔族NSCLC患者预后的独立因素。

Objective To investigate the positive rates of kinesin family member 5B(KIF5B) and rearranged during transfection(RET) fusion gene and echinoderm microtubule-associated protein-like 4(EML4) and anaplastic lymphoma kinase(ALK) fusion gene, as well as the clinical pathological characteristics in EGFR negative, stage Ⅳ Uygur NSCLC patients of Xinjiang Uygur Autonomous Region. The survival analysis of the patients was also conducted. Methods The expression of KIF5B-RET and EML4-ALK fusion genes was examined by RT-PCR, Sanger DNA sequencing, FISH and Ventana IHC methods in 90 cases of EGFR negative, stage Ⅳ Uygur NSCLC patients. These patients were followed-up to record the clinical outcome. Results Among the 90 patients of EGFR negative stage Ⅳ NSCLC, 6 cases (6.7%) had positive expression of KIF5B-RET fusion gene, and 12 cases (13.3%) had positive EML4-ALK. All positive cases were adenocarcinoma. The expressions of KIF5B-RET and EML4-ALK were both significantly related with the pathological type(both P<0.05), but were not related with gender, age, smoking history, lymph node metastasis or differentiation degree(all P>0.05). Besides, survival analysis showed that there was no significant difference in the median overall survival rates between the KIF5B-RET positive and the KIF5B-RET negative patients (17.5 months vs 15.8 months, P>0.05). Similarly, the median overall survival rates were similar between the EML4-ALK positive and the EML4-ALK negative patients (17.3 months vs 16.2 months, P>0.05). Conclusion For EGFR negative stage Ⅳ NSCLC Uygur patients, the expression status of KIF5B-RET or EML4-ALK fusion gene cannot be used as an independent factor in assessing the prognosis.

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