HNPCC家系篩查及HNPCC家系中hMLH1、hMSH2蛋白表達(dá)分析.pdf

1、石河子大學(xué)碩士學(xué)位論文HNPCC家系篩查及HNPCC家系中hMLH1、hMSH2蛋白表達(dá)分析姓名：丁元升申請(qǐng)學(xué)位級(jí)別：碩士專業(yè)：外科學(xué)指導(dǎo)教師：張劍權(quán);黃桂林2011-06II Abstract Objective: To build up the complete date for this hereditary nonpolyposis colorectal cancer family member, and to draw a p

2、arentage map of it. Draw up scientific and individuated follow-up visit schedule for the members in this parentage according to the result of expression of hMLH1、hMSH2. And to supply a advanced screen for the research gr

3、oup which to study the germline mutations of human mismatch repair gene hMLH1 and hMSH2 in this parentage. Method: 1. Screening of hereditary nonpolyposis colorectal cancer: Set up follow-up records for all the members

4、in this family and follow-up visit should be carried out by means of telephone, letter and face to face interview. Consummate clinical data, then draw the family map which the proband was made the core and do pedigree an

5、alysis of it. 2. Detection of expression of hMLH1 or hMSH2 protein: The tumor tissues of HNPCC group and normal intestine mucosa of the members of this family were immunohistochemically examined for hMLH1 and hMSH2, the

6、n we analyzed the relationship and correlation of negative expression in HNPCC group with clinicopathologic findings. Result: 1. The family have 105 members, and 76 members have direct relative with proband, and 8 member

7、s died because of hereditary nonpolyposis colorectal cancer, and 7 member died because other disease. In this parentage, 17 members have hereditary nonpolyposis colorectal cancer, 15 cases are colorectal cancer, and 4 me

8、mbers onset age ＜50，and 10 occurrence in the right half colon, 5 occurrence are in the left half colon. In pathology tape, tubular adenocarcinoma is 3 cases, mucinous adenocarcinoma is 7 cases, and mixed carcinoma is 5 c

9、ases. And well-differentiated is 3 cases, moderately differentiated is 4 cases, poorly differentiated is 8 cases. In addition, extra colonic tumor in this parentage, gastric cancer is 1 case, endometrial cancer is 4 case

10、s. 2. The negative expression of hMLH1 in the HNPCC group and healthy member group is 5 cases and 4 cases. The negative expression of hMSH2 in the HNPCC group and healthy member group is 4 cases and 2 cases. We had not f

11、ound hMLH1 and hMSH2 protein expressed at the same time in the same case. Conclusion: 1.This family is a fulfilled criteria of Amsterdam Ⅱ,and is a classical HNPCC parentage. 2.In the HNPCC group, the negative expression

12、 of hMLH1 and hMSH2 protein have significant difference in the tumor position and the degree of pathological differentiation, and highly related with them. But have no significant difference in the sex, the onset age and

13、 the class of Dukes. 3. Detection of expression of hMLH1 or/and hMSH2 protein would help to make pefect plan of the follow-up for this family. Key words: Colorectal cancer; hereditary nonpolyposis colorectal cancer; Mis