c-abl基因在卵巢恶性肿瘤中的突变及意义

The mutations and clinical significances of gene c-abl in the ovarian tumors

目的研究c-abl基因在人卵巢肿瘤组织中的突变情况及其临床意义,探讨其在卵巢肿瘤的发生、发展过程中的作用。方法应用PCR技术及序列分析方法检测和分析88例正常卵巢、上皮性肿瘤组织中c-abl基因在外显子3、4区的突变。结果①c-abl基因在外显子3、4区的突变总体上表现为点突变。卵巢恶性肿瘤组织及交界性肿瘤的突变率较正常及良性肿瘤组高;②卵巢恶性上皮性肿瘤组织中,突变率与病理类型无关,随肿瘤组织分化、临床分期、淋巴结转移的进展而增高;③在卵巢恶性上皮性肿瘤组织中,c-abl基因在外显子3、4的点突变集中在5个位点,它们或单独或共同存在,影响该蛋白的结构和功能。结论c-abl基因在外显子3、4区的突变与卵巢上皮性癌的分化、临床分期和淋巴结的转移呈正相关,可成为判断该肿瘤恶性度的指标之一。

Objective To investigate the mutations of gene c-abl and their significance in the ovarian tumors and analyze the relationship of its mutations with the development of the ovarian tumors.Methods The mutations of gene c-abl in exon 3 and 4 were studied with PCR and sequencing technique in 5 normal ovarian tissues,20 benign ovarian epithelial tumors,16 ovarian borderline epithelial tumors and 47 ovarian epithelial carcinomas.Results ①The mutations of gene c-abl in exon 3 and 4 in 88 normal ovarian tissues and ovarian epithelial tumors presented point mutation.The mutation rate of the borderline epithelial tumors was statistically higher than that of normal and benign group（P〈0.05）,and that of carcinoma was the highest（P〈0.05）;②In 47 ovarian epithelial carcinomas,there was no difference in the mutation rates during the different pathological types;and there were distinct differences during the groups of different differentiated grade,the development of FIGO clinical stages and lymphatic metastasis;③There were 5 mutation sites existing solely or together in exon 3 and 4.Conclusion The mutation of c-abl in exon 3 and 4 relates to the differentiation,the clinical FIGO staging and lymphatic metastasis,and the gene could be the one of indexes that indicates the malignant grade of the ovarian tumors in clinics.