| Our study paid attention to collect the kindreds of HNPCC and performed some research works in the phenotype and their molecular mechanism in Chinese HNPCC. Then, we used these results to screen the HNPCC families and aimed to make a progress in the study of Chinese HNPCC.Part one The clinicopathological features of Chinese HNPCCUnder the informed consent, We collected 167 patients from 31 HNPCC kindreds(Group HNPCC). Among them, there are 135 patients with colorectal cancer. We compared these patients with 40 patients with colorectal cancers from suspected HNPCC kindreds (Group sHNPCC ) and 124 patients with sporadiccolorectal cancer(Group sCRC).Sex male to female was 71 to 64. Mean AgeGroup HNPCC was 48.6yr and ranged from 22 to 78; Group sHNPCC was 49.8yr and ranged from 26 to 75; Group sCRC was 54.8yr and ranged from 22 to80. Location of the tumours Group HNPCC: ascend colon was43(31.9%),transverse colon was 20(14.8%),descend colon was 11(8.1%),sigmoid colon was 9(6.7%) and rectum is 52(38.5%); Group sHNPCC: ascend colon was 2(5.0%),transverse colon was 2(5.0%), sigmoid colon was 4(10.0%) and rectum is 32(80.0%); Group sCRC :ascend colon was 21 (16.9% ) ,transverse colon was 6 (4.8%) ,descend colon was 14 (11.3%) ),sigmoid colon was 21 (16.9%) andrectum is 62 (38.5%) .Pathology Group HNPCC: adenocarcinoma is 108( 80.0% ) ,mucinous cancer is 24 (17.8% ) and the mixture type is 3 ( 2.2% ); Group sHNPCC: adenocarcinoma is 36 ( 90.0% ) and mucinous cancer is4 (10.0% ); Group sCRC: adenocarcinoma is 112 ( 90.3% ) ,mucinous cancer is 9( 7.3% )and the mixture type is 3 (2.4%). Dukes stage Group HNPCC :DukesA is 4 (2.9%) ,Dukes B 64 (47.4%) ,Dukes C 39 (28.9%) ,Dukes D 28 (20.7%) ; Group sHNPCC :Dukes B 20(50.0%),Dukes C 109(25.0%),Dukes D 10(25.0%); Group sCRCrDukes B 38 (30.6%) ,Dukes C 56 (45.2% ) ,Dukes D 30(24.2%) .Survuival rate Group HNPCC: Three years survival rate is70.3%,5 years survival rate is 49.9% and 10 years survival rate is 39.7%; Group sHNPCC : Three years survival rate is 72.5%,5 years survival rate is 54.1% and 10 years survival rate is 31.0%; Group sCRC31.0%; Group sCRC : Three years survival rate is 68.5% and 5 years survival rate is 49.9%. Thirty-four multiple primary cances were found in Group HNPCC. Out of them, eleven was synchronous cancer and 23 was metechronous cancer .The median interval between two times cancers was 65 monthes and ranged from 48 to 180.There were 190 cancer in 167 patients . Among them, there were 147 (77.37%) colorectal cancer , 11 (5.79%) gastric cancers, 10 (5.26%) endometrium cancers, 5 (2.63%) ovary cancers, 3 (1.58%) brain tumors and breast cancers respectively, 2 (1.05%) lung cancers % bladder cancers dermiod cancers and liver cancers respectively, one(0.53%)small bowel cancer and gallbadder cancer. The cumulative lifetime risk of first cancer as follows: colorectal cancer is 93.3%, gastric cancers is 28.1% endometrium cancer is 23.3%,brain tumor is 9.8%, liver-gall-pacreatic cancer is 6.1%,ovary cancer is 3.9%,bladder cancer is 3.8%,breast cancer is 2.8% and the total extracolonic cancer is 56.1%; The cumulative lifetime risk of all HNPCC associated cancer as follows: colorectal cacner is 96.5%,gastric canceris is 29.9%,endimetrium cancer is 24.8%, brain tumor is 10.9%, liver-gall-pacreatic cancer is 7.1, ovary cancer is 5.6%,bladder cancer is,breast cancer is 3.8% and the total extracolonic cancer is 76.1%.Part two The study of the germline mutation of hMLH1 andhMSH2 and their phenotype analysisStudy one The germline mutation of hMLHl and HMSH2 in Chinese HNPCCUnder the informed consent, the peripherial blood were attained from index patients of 11 HNPCC families and 6 sHNPCC families. Genome DNA were extracted. Designed the PCR primers of 35 exons of hMLHl and hMSH2 and detected the mutation of exons by silver-dye PCR-SSCP. Six germline mutations of hMLHl and hMSH2 were found in 11 HNPCC families and 3 were found in 6 sHNPCC families. The germline mutation in HNPCC families as follows: fa...
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