子宫内膜癌c-abl基因的突变及临床意义

Mutations and Clinical Significance of Gene c-abl in the Endometrial Carcinoma

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.