Parentage Screening Of Hereditary Nonpolyposis Colorectal Cancer And Analysis The Expression Of HMLH1/hMSH2 In This Parentage

Objective: To build up the complete date for this hereditary nonpolyposis colorectal cancer family member, and to draw a parentage 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 group 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 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 analysis 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, then 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 members 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 members 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 cases. 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 cases.2. The negative expression of hMLHl 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 found hMLH1 and hMSH2 protein expressed at the same time in the same case.Conclusion:1.This family is a fulfilled criteria of AmsterdamⅡ,and is a classical HNPCC parentage.2.In the HNPCC group, the negative expression 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 the class of Dukes.3. Detection of expression of hMLHl or/and hMSH2 protein would help to make pefect plan of the follow-up for this family.