直肠癌远端移行粘膜p53、k-ras基因突变的检测及其临床意义  

Clinical Significance of Detection of p53 and k-ras Mutations in the Distal Transitional Mucosa Adjacent to Rectal Cancer

作　　者：崔喆[1] 陈路[1] 钟鸣[1] 陈锦先[1] 王少华[1] 季福[1] 

机构地区：[1]上海交通大学医学院附属仁济医院普外科,上海200001

出　　处：《标记免疫分析与临床》2008年第4期193-195,208,共4页Labeled Immunoassays and Clinical Medicine

摘　　要：运用聚合酶链式反应-单链构象多态性分析(PCR-SSCP)方法,通过对直肠癌切除标本远端移行粘膜p53、k-ras基因突变的检测,界定远端移行粘膜存在的范围。直肠癌根治术标本54例,于自然张力下取肿瘤下缘1.0cm(A组)、2.0cm(B组)、3.0cm(C组)粘膜标本,对照组(D组)40名正常直肠粘膜取自痔上粘膜环切吻合术(PPH)标本,采用PCR-SSCP法分别检测各标本的p53、k-ras基因突变情况。结果显示,A、B组基因突变率无显著性差异(P=0.321),与对照组有显著性差异(P=0.012),C组基因突变率与A、B组有显著性差异(P=0.002),与对照组无显著性差异(P=0.072)。按病例分析,54例p53突变者占35.2%(19/54);k-ras突变者占20.4%(11/54);44.4%(24/54)发生至少一种基因突变,6例(11.1%)出现p53和k-ras基因同时突变。突变的发生与患者年龄、性别、癌肿大小、病理类型、TMN分期等因素均无关。直肠癌远端移行粘膜p53、k-ras突变多位于2cm内,3.0cm处与正常粘膜无显著性差异,可以界定为分子遗传学上的远端最小安全切缘。To definite the minimum surgical margins （SMs） by evaluating the presence of mutation of p53 and k-ras gene in the distal transitional mucosa （TM） adjacent to rectal cancer, the mutation of p53 and k-ras gene was detected in 54 tissues of TM and 40 tissues of normal mucosa （control） getting from PPH proceeds by means of PCR-SSCP silver staining. The 54 TM were divided into 1.0 cm （group A）, 2.0 cm （group B）, 3.0 cm （group C） with regard to the distance from the low margins of the rectal cancer and the control group （group D）. The presence of gene mutations in each group was observed. The results showed that the mutation rate of group C was significantly lower than group A and B（P=0. 002）, but has no difference to group D （P=0. 072）. As to the mutation rate of cases, the mutation rate of p53 was 35.2% （19/54）. The mutation rate of k-ras was 20.4%（11/54）, 44.4%（24/54）have one kind of mutation and 11.1% （6/54）have mutations in both gene in all the 54 cases. The presence of mutation in both genes was not related to the ages and sex of patients as well as the sizes, pathological type and TMN of rectal cancer. The results indicate that p53 and k-ras mutation can be detected in TM by using PcR-sscP silver staining method. The mutations of these two genes were normally present in the rage of 2 cm distance from the distal margins of rectal cancer. 3.0cm distal from cancer can be seen as the minimum safe surgical margins for the mutation rate and there was no difference to normal mucosa.

关 键 词：直肠癌 移行粘膜 P53 K-RAS PCR-SSCP 最小手术切缘 

分 类 号：R735.37[医药卫生—肿瘤]