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Analysis of the Phenotype Features and Their Molecular Mechanism of Hereditary Nonpolyposis Colorectal Cance (HNPCC)

Author: JinHeiYing
Tutor: MengRongGui;YuDeHong;CuiLong
School: Second Military Medical University
Course: General Surgery
Keywords: Hereditary non -polyposis Colorectal Cancer Pedigree analysis Mismatch repair Microsatellite instability Promoter Filter Immunohistochemistry
CLC: R735.3
Type: PhD thesis
Year: 2004
Downloads: 99
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Collect the Chinese HNPCC families on the basis of this study in a large sample study of HNPCC phenotype, molecular variation mechanism and apply research results to clinical HNPCC screening, to HNPCC level of research and clinical diagnosis and treatment. The first part of human hereditary non-polyposis colorectal cancer clinical and pathological features research premise of informed consent, collecting 31 of 167 patients (HNPCC group meet the Amsterdam criteria HNPCC families), of which 135 cases of colorectal cancer patients and 40 patients with suspected HNPCC standard atypical HNPCC 20 home system (sHNPCC group), 124 cases of sporadic the colorectal (sCRC group) comparison. Gender: male to female ratio of 71:64. Age: HNPCC group was 48.6 years (range 22-78), sHNPCC 49.8 years (range 26-75), sCRC group 54.8 years (range 22-80). Tumor: HNPCC group ascending colon cancer and 43 patients (31.9%), transverse colon in 20 patients (14.8%), descending colon in 11 cases (8.1%), sigmoid colon cancer nine cases (6.7%) rectal cancer 52 cases (38.5%) ascending colon; sHNPCC group 2 patients (5.0%), transverse colon in 2 cases (5.0%), sigmoid colon cancer patients (10.0%), colorectal cancer and 32 patients (80.0%); the sporadic colorectal group liters colon cancer 21 6 cases (16.9%), transverse colon (4.8%), descending colon in 14 patients (11.3%), sigmoid colon cancer, 21 cases (16.9%) of colorectal cancer in 62 patients (38.5%); pathological type: HNPCC group adenocarcinoma 108 patients (80.0%), mucinous carcinoma, 24 cases (17.8%), mixed three cases (2.2%); sHNPCC group adenocarcinoma in 36 cases (90.0%), mucinous carcinoma in 4 cases (10.0%); sCRC group adenocarcinoma 112 cases (90.3%), mucinous carcinoma cases (7.3%), mixed three cases (2.4%). Dukes stage: the HNPCC group of Dukes A four cases (2.9%), DukesB 64 cases (47.4%), Dukes C in 39 cases (28.9%), Dukes D 28 cases (20.7%); sHNPCC group with Dukes B in 20 cases (50.0%), Dukes C stage 109 cases (25.0%), Dukes D 10 cases (25.0%); Dukes B of 38 patients (30.6%), Dukes C sCRC group of 56 cases (45.2%), Dukes D of 30 cases (24.2%). Survival rate: HNPCC group 3 years 70.3%, 49.9% in five years, 10 years, 39.7%; sHNPCC group 72.5%, 54.1% in five years, 10 years, 31.0%; sCRC group three years of 68.5%, 44.3% in five years. Above Comparison: the HNPCC group sHNPCC group, in addition to the tumor site remaining tumor characteristics, no significant differences comparison of HNPCC, and sHNPCC characteristics and sCRC, than sex, all of the above characteristics of significant differences. 31 series of 167 patients there were 190 cases of cancer, colorectal cancer, 147 cases (77.37%), gastric cancer 11 cases (5.79%), endometrial cancer and 10 cases (5.26%), five cases of ovarian cancer (2.63%) , two cases each of the three cases (1.58%) glioma and breast cancer, lung cancer, bladder cancer, skin cancer and liver cancer (1.05%), small bowel and gallbladder cancer cases (0.53%). HNPCC-related the starting tumor cumulative risk of: 93.3% of colorectal cancer, gastric cancer 28.1%, 23.3% of endometrial cancer, brain tumors 9.8% 6.1% Pancreatic tumors, ovarian cancer, 3.9%, 3.8%, bladder cancer, breast cancer 2.8 %, Second Military Medical University Chinese Abstract Bo l: the papers total parenteral tumor 56.1%; cumulative incidence risk of HNPCC associated tumors: colorectal cancer 96.5%, 29.9% of gastric cancer, endometrial cancer, 24.8%, 10.9% of brain tumors Pancreatic tumors 7.1%, 5.6% of ovarian cancer, cancer of the bladder hazy 1.4%, 3.8% of breast cancer, 76.1% of the total parenteral tumor. The second part of the Chinese hereditary nonpolyposis colorectal cancer pedigrees hMLHI and hMSHZ gene germline mutation and phenotype analysis of a Chinese hereditary nonpolyposis colorectal cancer pedigrees mismatch repair the base hMIJHI and hMSHZ gene species Department of mutations on the basis of informed consent to extract 11 HNPCC family lines and six SHNPCC home department of the peripheral blood, genomic DNA was extracted, design hMLHI and hMSHZ gene of 35 outside the significant sub-primers, silver stained PCR an SSCP combined sequencing method detection of mutations in the 35 exons. n HNPCC families were found hMLHI, and hMSHZ gene germline mutation 6, the six sHNPCC pedigrees were found hMLHI, and hMSHZ gene germline mutations in three. 11 HNPCC families the LHI and into SHZ detected mutations: C4 pedigree: PCR-SSCP hMLHI exon 18 abnormal bands. Sequencing confirmed hMLHI exon 18 of the 2081 T insertion, leading to a nonsense mutation. Cll home department: PCR an SSCP is not found hMLHI abnormal bar band found hMSHZ to 13 exons have abnormal bar with found hMSHZ to 13 significant child have abnormal bar band, sequencing confirmed 2107 G-A variation, resulting in 703 serine (Ser) is changed to Su histidine (Tyr). C13 pedigree: PCR SSCP found hMSHZ n-exon exception bands, The sequencing confirmed 1760 A mutated to C, resulting in a 587 (Tyr), threonine variation half skin leucine (CyS). The C51 pedigree: hMLHI gene exon 19 2209 C insertion lead to downstream frameshift mutation occurs. C52 pedigree: hMLHI genes outside the 18 exon 2069 G-C lead to 699 arginine (Arg) variation of glutamate (Glu). C58 pedigree: a T heterozygous hMSHZ gene intron 12 C functions need further validation. Test results of six suspected HNPCC families: C1 pedigree: the PCR an SSCP detection hMLHI 1 outside exon abnormal bands sequencing confirmed 46 hMLHI gene GTG ATG heterozygous peak Screenshot acid (Val) to methionine (Met). CZ pedigree: hMLHI genes outside the 18 exon 2069 G C missense mutation, resulting in 699 arginine (Arg) variation of glutamate (Glu). C8 family department: PCR detected a SSCp the outside 12 BU MLHI exon abnormal bands sequencing confirmed 364 C for hMLHI gene insertion causes downstream frameshift mutation occurs. Found nine mutations, hMLHI mutation seven and three mutations located hMLHI exon 18 the prompt in Chinese Peng horses C in, hMLHI gene mutation common And hMLHI 18 outside exon mutation more Chinese man-days NPCC mismatch repair gene mutation characteristics. II Chinese hereditary non-polyposis colorectal cancer patients with microsatellite instability study, 12 cases, 12 H Han PCC pedigree proband study, 16 cases of sporadic colorectal cancer patients as a second Military Medical University of Chinese Abstract Bo _ on paper according to group, the extracted patients with peripheral blood and tumor specimens genome the DNA design microsatellite signs BAT 26, BAT a 25 DZS 123, D55346 and D17S25O of ??PCR primers, silver staining, PCR a SSCP to detect differences in peripheral blood and tumor microsatellite markers, more than two in five microsatellite markers positive

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