人乳腺癌组织p53基因突变及过度表达的临床意义  

Clinical significance of p53 gene mutations and protein overexpression in breast cancer

作　　者：王贵英[1,2,3,4] 李春仲[1,2,3,4] 吴祥德 丛斌[1,2,3,4] 左连富 王晓玲[1,2,3,4] 王桂兰[1,2,3,4] 

机构地区：[1]河北医科大学第四医院外科 [2]河北医科大学分子生物学研究室 [3]河北省肿瘤研究所 [4]河北医科大学第四医院病理科

出　　处：《实用肿瘤杂志》1998年第4期203-206,共4页Journal of Practical Oncology

摘　　要：应用聚合酶链反应－单链构象多态（ＰＣＲ－ＳＳＣＰ）分析和流式细胞术（ＦＣＭ），研究３０例患者乳腺癌组织ｐ５３基因５～８外显子的突变情况、ｐ５３蛋白免疫组化检出情况、ＤＮＡ倍体及雌激素受体（ＥＲ）含量；并与各生物学参数进行了相关研究，以探讨ｐ５３基因与乳腺癌发生、发展的关系。结果提示：①全组１４例（４６．７％）发现ｐ５３基因突变，其中１例为原位导管癌。②ｐ５３蛋白检出阳性率为５３．３％（１６／３０），有ｐ５３基因突变的１４例中１２例为蛋白检出阳性，２例为阴性。③ｐ５３基因突变率与年龄＜４５岁、组织分化Ⅲ级、ＥＲ阴性及ＤＮＡ非整倍体显著相关（Ｐ＝０．３５５，Ｐ＝０．０００６，Ｐ＝０．０２５３，Ｐ＝０．００３），而与肿瘤大小、临床分期及淋巴结转移情况无关。据此可得出如下结论：①ｐ５３基因突变是乳腺癌发生的早期事件。②免疫组化法检测基因突变存在假阴性，不能准确反映实际情况。③可能以ｐ５３基因突变预示肿瘤的恶性程度。To investigate the association of p53 gene with the development of breast cancer,p53 protein overexpression,DNA content and estrogen receptor(ER) of 30 cases with breast cancer were examined by means of polymerase chain reaction single strand conformation polymorphism(PCR SSCP),immunohistochemistry and flow cytometry(FCM),respectively.Results showed ①fourteen cases(46.7%) were found to have p53 gene mutation,among which one case was inductal carcinoma in situ;②positive staining for p53 protein was detected in 16 of 30 cases(53.3%),among which 12 cases were those with p53 gene mutations;③there was statistically significant association between p53 gene mutation and age,histological grade,ER and DNA ploidy status( P=0.0355,P=0.0006,P=0.0253,P =0.003 respectively) and no significant associations were found between mutations and tumor size,clinical stages,or node status.The study suggests:①p53 gene mutation might be an early event of breast cancer;②immunohistochemistry technique may not detect p53 gene mutation accurately for its false negative;③p53 mutation may predict more aggressive tumor and poorer prognosis.

关 键 词：乳腺癌 基因突变 P53基因 基因过度表达 

分 类 号：R737.902[医药卫生—肿瘤]