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子宫内膜癌c-abl基因的突变及临床意义 被引量:1

Mutations and Clinical Significance of Gene c-abl in the Endometrial Carcinoma
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摘要 目的:研究c-abl基因在子宫内膜癌组织的突变情况及其临床意义,探讨其与子宫内膜癌的关系。方法:应用PCR技术及序列分析方法检测和分析正常子宫内膜11例(正常内膜组)、子宫内膜良性病变21例(良性病变组)、子宫内膜不典型增生16例(不典型增生组)、子宫内膜癌62例(子宫内膜癌组)中c-abl基因在外显子3(exon3)、外显子4区(exon4)的突变,及其与子宫内膜癌不同临床病理特征的关系。结果:①c-abl基因在exon3、exon4的突变总体上表现为点突变。子宫内膜癌组及不典型增生组的突变率(77.42%,56.25%)较正常内膜组及良性病变组高(0,14.29%),差异有高度统计学意义(P<0.01)。②子宫内膜癌组织中,突变率与病理类型无关,随肿瘤组织分化程度降低、临床分期增高及淋巴结转移而增高(P<0.05);③在子宫内膜癌组织中,c-abl基因在exon3、exon4区的点突变集中在3个位点,它们或单独或共同存在,影响c-abl蛋白的结构和功能。结论:c-abl基因在exon3、exon4区的突变与子宫内膜癌的发生发展有关。其突变率随着子宫内膜癌的分化、临床分期的进展和淋巴结转移而增高,该基因的突变可成为判断子宫内膜癌恶性程度的指标之一。 Objective:To investigate the mutations of gene c-abl in the endometrial carcinoma and the re- lationship of its mutations with the endometrial carcinogenesis. Methods:The mutations of gene c-abl in exon 3 and 4 were detected by PCR in 11 normal endometrial specimens,16 endometrial atypical neoplasia speci- mens and 62 endometrial carcinoma specimens. Results: ①The mutations of gene c-abl in exon 3 and 4 were commonly point mutation. The mutation rate in endometrial carcinoma specimens was the highest( P 〈 0. 01 ) ,and the mutation rate in endometrial atypical neoplasia specimens was statistically higher than that in normal and benign specimens(P 〈 0. 01 ) ;②In the endometrial carcinoma group, there were no differences in the mutation rates among different pathological types, while there were distinct differences according to dif- ferentiation grade, FIGO staging and lymphatic metastasis(P 〈0. 05); ③There were 3 mutation sites existing solely or together in exon 3 and 4. Conclusions:The mutations of c-abl in exon 3 and 4 are related with the differentiation, FIGO staging and lymphatic metastasis, which could be the one of indexes that indicates the malignant grade of the endometrial lesions in clinics.
出处 《实用妇产科杂志》 CAS CSCD 北大核心 2012年第11期957-960,共4页 Journal of Practical Obstetrics and Gynecology
关键词 c-abl基因 突变 子宫内膜癌 外显子3 外显子4 Gene c-abl Mutation Endometrial carcinoma Exon3 Exon4
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