Female ; Humans ; Infant ; Mutation ; Pain Insensitivity, Congenital ; complications ; genetics ; pathology ; Receptor, trkA ; genetics

OBJECTIVETo investigate the association of the micronucleus (MN) formation in lymphocytes from patients with the malignant degrees of colorectal cancer.

METHODSThe MN test in capillary blood lymphocytes was conducted in 112 patients randomly selected from in-hospital patients before therapy. Experimental data were analyzed by SPSS (v.10.1) software.

RESULTSThe differences in the frequency of MN between 7 pathological types of colorectal cancers and controls were statistically significant (P<0.01). The frequency of MN increased with the decrease of the histological differentiation in colorectal cancer, and the statistically significant differences were seen between low differentiation group and the other differentiation groups in colorectal cancers.

CONCLUSIONThere is a significant correlation between MN formation and the malignant degrees of colorectal cancer, and MN formation will be a useful biomarker for the identification of malignant degrees of colorectal cancer before operation or for the screening of high risk subgroup.

Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; blood ; genetics ; pathology ; Female ; Humans ; Lymphocytes ; metabolism ; pathology ; Male ; Micronucleus Tests ; methods ; Middle Aged

OBJECTIVETo evaluate the efficacy of transsacral local wide resection for mid-lower rectal tumors.

METHODSClinical data of 133 patients undergone transsacral local wide resection for mid-lower rectal tumors between September 1994 and September 2005 were analyzed retrospectively.

RESULTSNo patient died during operation. Fecal fistula occurred in 6(4.5%) patients. Negative resection margin was proved histologically in all the patients. Postoperative diagnosis was adenoma in 28 patients, hyperplastic polyp in 3 patients, carcinoid in 8 patients, gastrointestinal stromal tumor in 1 patient,adenoma with intra-mucosal carcinogenesis in 29 patients and adenocarcinoma invading into submucosa in 64 patients. Median follow-up was 76 months in 64 patients with T(1) adenocarcinoma, whose 5-year cumulative local recurrence and overall survival were 2.0% and 100% respectively. No local recurrence was observed in other patients.

CONCLUSIONTranssacral local wide resection is simple and safe for mid-lower rectal tumors, which is an appropriate procedure for mid-lower rectal benign tumor and can serve as a sphincter-saving operation for selected T(1) lower rectal carcinoma.

Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Rectal Neoplasms ; pathology ; surgery ; Retrospective Studies ; Sacrococcygeal Region ; surgery ; Young Adult

Objective To analyze the viral genetic characteristics of hantaviruses carried by Microtus maximowixzii in Yakeshi of Inner Mongolia Autonomous Region and its relationship with Hantaan virus (HTNV) and Seoul virus (SEOV) viruses as well as to identify the natural host of Khabarovsk virus (KHAV).Methods HV specific RNAs were detected by RT-PCR.Complete S and M segment were amplified from the RNA-positive samples.Phylogenetic analysis were performed to estimate the genetic characterization and the relationship with other hantaviruses.Results Fifty two Microtus maximowixzii voles were captured in Yakeshi areas.Of those voles,hanta-viral RNA was tested positive in 5 samples (9.62％).Complete S and M segments sequences were obtained from 5 and 2 lung samples,respectively.The complete S segment was consisted of 1848 to 1861 bp,and the M segment consisted of 3662 bp.These viruses were closely related to each other with 92.5％-96.4％ for the S segment sequences and 88.9％-95.4％ for the M segment sequences.They shared a higher identity with KHAV found previously in Yakeshi and KHAV of Russia.However,they were obviously different from the other hantavirus species.The 5 strains had the consistent secondary structure of nucleocapsid protein (NP) and glycoprotein (GP).When further comparing their secondary structures with those of HTNV and SEOV,our results indicated that there were no obvious differences in NP between KHAV and both HNTV,SEOV but with obvious difference in GP.Based on the S and M segment sequences,phylogenetic analyses revealed that these 5 strains clustered together with KHAV and formed a distinct lineage.Furthermore,all known KHAV strains could be divided into two small branches with a nucleotide divergence more than 5.3％.Conclusion Our research data revealed that KHAV was highly endemic among Microtus maximowixzii in Yakeshi area which supported the notion that Microtus maximowixzii had been the natural host of KHAV in the area.

OBJECTIVETo detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP).

METHODSThe diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history. The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were carried out to detect APC gene germline mutations.

RESULTSA novel mutation c.1999 C >T (Q667X) of APC, which leads to premature termination of the protein, was identified in this family. This mutation manifested an aggressive form of FAP with early onset of colorectal adenocarcinoma and colonic adenoma.

CONCLUSIONThe mutation of APC Q667X is the cause of clinical phenotype of this family with FAP, and the prophylactic colectomy for the affected family members should be considered.

Adenomatous Polyposis Coli ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; Adolescent ; Adult ; Base Sequence ; Child ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Female ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction

OBJECTIVETo investigate the association of the single-nucleotide polymorphism (SNP) IVS10+12 G>A in hMSH2 gene with colorectal cancer in a Chinese population of Jiangsu province.

METHODSA case-control study to investigate whether this SNP affects the risk of developing colorectal cancer was conducted. Subjects included 108 colorectal cancer patients and 180 healthy individuals. Peripheral white blood cell DNA was obtained from all subjects. The hMSH2 gene IVS10+12 G>A was genotyped using a PCR-based DHPLC, the existence of IVS10+12 G>A was verified by DNA sequencing.

RESULTSThe allele frequency of the IVS10+12 G>A in the hMSH2 gene in the healthy individuals was 51.7%. There was significant difference in the frequency of the IVS10+12 G>A between patients and healthy controls (P<0.05), and between familial patients and healthy controls (P<0.05). There was also significant difference of the frequency of the IVS10+12 G>A between patients younger than 50 years, and patients with high consumption of fried food and pickled vegetable and healthy controls respectively (P<0.05).

CONCLUSIONThis SNP may be associated with colorectal cancers in Chinese. Further investigation with larger sample size is needed.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; China ; Colorectal Neoplasms ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; MutS Homolog 2 Protein ; genetics ; Pedigree ; Point Mutation ; Polymorphism, Single Nucleotide ; Young Adult

Objective To evaluate the impact of alcohol dehydrogenase-2 (ADH2) and aldehyde dehydrogenase-2 (ALDH2) polymorphisms on the susceptibility of esophageal cancer. Methods A case-control study including 221 cases of esophageal cancer and 191 controls was carried out in Taixing city of Jiangsu province. ADH2 and ALDH2 genotypes were tested by PCR and denaturing high -- performance liquid chromatography (DHPLC). Results (1) Compared with ALDH2 G/G carriers, ALDH2 A/A (OR=5.69, 95%CI: 2.51-12.18) and ALDH2 G/A (OR=1.70, 95%CI: 1.08-2.68) carriers showed a significantly elevated risk of developing esophageal cancer, especially among alcohol drinkers with ALDH2 A/A (OR=8.63,95% CI: 2.07-35.95). (2) Statistical relation was not found between ADH2 genotypes and the risk of esophageal cancer, with regard to the status of alcohol consumption. (3) Whether subjects with whatever ADH2 genotype, ALDH2 G/A or A/A carriers was found to have significantly increased the risk of developing esophageal cancer, with ALDH2 A/A carriers appeared having higher esophageal cancer risk than those ALDH2 G/A carriers. (4)Compared those non-drinkers with both ALDH2 G/G and ADH2 A/A , drinkers with ALDH2 G/A or A/A and ADH2 C,/A or G/G genotypes showed a significantly elevated risk of developing esophageal cancer (OR=8.36, 95% CI: 2.98-23.46). Conclusion These results revealed that it was not ADH2 but ALDH2 polymorphisms and drinking alcohol had a significant interaction with the development of esophageal cancer, suggesting that in order to help lowering the risk of esophageal cancer, individuals who are carrying ALDH2 A/A or G/A genotypes should be encouraged to reduce their consumption of alcohols.

OBJECTIVETo study the clinical significance of detecting p53 gene mutation expression in colorectal cancer cells of peripheral blood.

METHODSFlow cytometry (FCM) was used to detect p53 gene mutation expression in peripheral blood cancer cells of 128 patients with colorectal cancer. Experimental data were analyzed by SPSS (v.11.0) software.

RESULTSThe lymph node metastasis showed the significant difference statistically (P<0.01) between p53 positive and negative expression in the colorectal cancer patients. The mutation p53 expression associated with existing histological differentiation (r=0.8476, P<0.05). A lymph node metastasis difference was observed between left and right colorectal cancers of mutation p53 positive expression.

CONCLUSIONDetecting the mutation p53 expression in cancer cells of peripheral blood might be helpful to the early diagnosis of colorectal cancer.

Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; diagnosis ; genetics ; pathology ; DNA, Neoplasm ; analysis ; Female ; Gene Expression ; Gene Expression Regulation, Neoplastic ; Genes, p53 ; genetics ; Humans ; Male ; Middle Aged ; Neoplastic Cells, Circulating ; metabolism ; Tumor Suppressor Protein p53 ; genetics

OBJECTIVETo investigate the etiological role of hMLH1 gene A655 polymorphism in colorectal cancer.

METHODSA case-control study was carried out, including 115 colorectal cancer patients and 135 healthy people as control. Genomic DNA was extracted from peripheral white blood cell from all the subjects. Polymorphism was detected by PCR-based DHPLC analysis and verified by DNA sequencing.

RESULTSThe hMLH1 gene A655G polymorphism was detected in 3.0% of healthy people and 11.3% of colorectal cancer patients (P<0.01), and the difference was significant (P<0.01). The hMLH1 gene A655G polymorphism was detected in 8.2% of tubular adenocarcinoma or tubular-papillary adenocarcinoma and 27.8% of mucinous adenocarcinoma, which was also significant (P<0.05).Meanwhile, hMLH1 gene A655G polymorphism was not associated with age, gender and lymphatic metastasis (all P>0.05).

CONCLUSIONSThe hMLH1 gene A655G polymorphism may play a role in the pathogenesis of colorectal cancer. Determination of the polymorphism may be a potential marker to predict the prognosis of colorectal cancer patients.

Adaptor Proteins, Signal Transducing ; genetics ; Case-Control Studies ; Colorectal Neoplasms ; etiology ; genetics ; DNA Mismatch Repair ; Female ; Humans ; Male ; Middle Aged ; MutL Protein Homolog 1 ; Mutation ; Nuclear Proteins ; genetics ; Polymorphism, Single Nucleotide ; Prognosis ; Sequence Analysis, DNA

OBJECTIVETo investigate the status of hypermethylation in the promoter 1A region of the adenomatus polyposis coli (APC) gene in 3 familial adenomatous polyposis (FAP) pedigrees and to screen large fragment deletions in the APC gene.

METHODSDNA from tumor tissues and corresponding normal tissues of 5 FAP patients was modified by sodium bisulfite. Then the methylation status of the APC gene was analyzed by methylation specific-PCR (MSP) and DNA sequencing. Multiplex ligation-dependent probe amplification (MLPA) was used to screen aberrations involving large fragments from all the 15 exons and promoter region of APC gene.

RESULTSNo methylation was present in normal tissues. Hypermethylation was found in tumor tissues of one proband and her son. Loss of heterozygosity was observed in another patient from the same FAP family.

CONCLUSIONAberrant methylation of the APC promoter region provides an important mechanism for impairing APC function and may occur early during colon neoplasia progression. Loss of heterozygosity may play a role in patients with classical polyposis.

Adenomatous Polyposis Coli ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; Adult ; Base Sequence ; Colorectal Neoplasms ; genetics ; CpG Islands ; DNA Methylation ; DNA, Neoplasm ; Female ; Gene Expression Regulation, Neoplastic ; Genes, APC ; physiology ; Heterozygote ; Humans ; Loss of Heterozygosity ; Male ; Polymerase Chain Reaction ; Promoter Regions, Genetic ; physiology