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Showing 4 results for Adenomatous Polyposis
Relation of red blood cell's folate and methylenetetrahedrofolate reductase C677T polymorphism to colorectal adenoma
Zohreh Mazloom , Seyed Mohammad Bagher Tabei, Salmeh Bahmanpour , Hamid Reza Tabatabaee , Mahvash Alizadeh Naeni,
Volume 72, Issue 8 (11-2014)
Abstract
Background: Red Blood Cell's (RBC)’s folate may be related to decreased risk of colorectal adenoma. Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate metabolism. The MTHFR C677T polymorphism is located in the Exon 4 region and is associated with the change of folate level. This study evaluated the associations between RBC’s Folate levels and colorectal adenoma risk, taking into account whether this associations is modified by MTHFR Polymorphism. Methods: In a case-control study conducted from January to October 2007 in Endoscopy-Colonoscopy ward of Shahid Faghihi Hospital, Shiraz. Participants were 177 case of colorectal adenoma who had pathologic-confirmed adenomatous polyps in full colonoscopy examination and 366 controls without polyps in full colonoscopy. Fasting venous blood were drawn from patients in order to determine RBC’s folate and to identify the MTHFR polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: Gender Distribution in the patient group were 57.6% male and 42.3% female and control group consisted of 55.1% male and 43.9% female. 50.2% of cases and 49.2% of controls were in the age group “45 years and above”. The T allele frequency was 56.6% in control group and 34.4% in colorectal adenoma patients. There was a significant association between T allele in -677 position of MTHFR gene and colorectal adenoma susceptibility (OR: 1.85, 95% CI: 0.76-4.24, P<0.001). Mean concentration of RBC’s folate was not statistically significant among three groups with TT genotype (mutation homozygote), CT genotype (heterozygote), and CC genotype (wild-type homozygote) (P>0.05) but mean concentration of RBC’s folate was the lowest in TT genotype compare with two other genotype. Odd's Ratio for low (<140ng/ml) versus high level of RBC’s folate in participants with TT genotype was (OR: 2.08, 95% CI: 0.10-2.19, P<0.05) as compare with the CC ones. Conclusion: The result of this study suggested an inverse association between RBC's folate concentration and colorectal adenomas risk, which may be more relevant for those with the MTHFR TT genotype.
Germline mutation at codon 1309 of the adenomatous polyposis coli gene and exteracolonic manifestations in familial adenomatous polyposis
Faegheh Behboudi Farahbakhsh, Hossein Maghsoudi, Hamid Asadzadeh Aghdaei , Ehsan Nazemalhosseini-Mojarad,
Volume 75, Issue 4 (7-2017)
Abstract
Background: Familial adenomatous polyposis (FAP) is the most common components polyposis syndromes. It incidence is for less than 1 percent of colorectal cancer cases. FAP is characterized by germline mutations in the adenomatous polyposis coli (APC) gene. Generally, there are hundreds to thousands of adenomatous polyps in colon and rectum of patients. The aim of the current study was to evaluate the germline mutation at codon 1309 of the APC gene and its association with extracolonic manifestations in Iranian patients with FAP.
Methods: This Cross-sectional study was conducted at the Gastroenterology and Liver Diseases Research Center, Taleghani Hospital, Tehran, Iran from July 2012 to February 2015. In this study, thirty-three patient with FAP was examined. Demographic and clinical data were gathered from patients. In addition, peripheral blood samples were collected to study the most common mutations of the APC gene and bidirectional sequencing was carried out after genomic DNA extraction by salting out method. Primers were designed by GeneRunner version 5.0.4 (http://www.generunner.com). The samples were run on an applied biosystems 3130XL genetic analyzer. The results were analyzed by SPSS software, version 23 (IBM, Armonk, NY, USA).
Results: After analyzing the mutation cluster region (MCR), we have identified five germline mutations with 5bp deletion at codon 1309 of the APC gene (c.3927_3931delAAAGA), that it is equivalent to 15.2% (5.33). This mutation has been known as a small deletion, that it is a variant of frameshift mutation. Mutation at codon 1309 has significant association with clinical and pathological features including the number of polyps (P=0.001), duodenum demonstration (P=0.008), fundic gland polyp (P=0.002) and congenital hypertrophy of the retinal pigment epithelium (P=0.021).
Conclusion: The analysis of the findings has shown that mutation in Codon 1309 of adenomatous polyposis coli gene may be associated with severe polyposis and extracolonic manifestations. In conclusion, there may be a correlation between a specific germline mutation and the extracolonic manifestations.

Investigating the number of Lactobaccilus, Escherichia coli and Prevotella in fecal microbiota of adenomatous polyposis and colorectal cancer patients
Sama Rezasoltani , Hamid Asadzadeh Aghdaei , Hossein Dabiri , Abbas Akhavan Sepahi , Mohammad Hossein Modarressi , Ehsan Nazemalhosseini Mojarad ,
Volume 78, Issue 3 (6-2020)
Abstract
Background: Colorectal cancer is the second most common cancer in the world which is mainly caused by epigenetic and environmental factors. Among these epigenetic factors, gut microbiota is an important one. Although it has not been proved a unique group of bacteria correlated with colorectal cancer, these findings have generally demonstrated differences between healthy and disease gut microbiome in population. Actually, the identification and investigation of intestinal microbiota in early detection of colorectal cancer have been highlighted in new researches and studies. Herein, in the current study, we aimed to evaluate the number of selected gut bacteria including Lactobacillus and Escherichia coli and Prevotella in the fecal specimens of adenomatous polyposis patients, colorectal cancerous cases in compared to normal participants in terms of estimating important role of gut microbiota during colorectal cancer initiation and progression.
Methods: The current research was a case-control study. Fecal samples were provided from 31 healthy individuals, 42 adenomatous polyposis patients and 20 colorectal cancer cases that were referred to Taleghani Hospital, Tehran, Iran, from August 2016 to August 2017 for colorectal cancer screening tests. Fecal samples were collected to analyze intestinal bacteria including, Lactobacillus, Escherichia coli, and Prevotella by absolute quantitative real-time polymerase chain reaction (PCR). The number of these gut bacteria was precisely determined by this method of real-time PCR.
Results: Higher number of Prevotella with 24.6 CT number (P<0.005) and E.coli with 20.4 CT number (P<0.015) were achieved in colorectal cancer cases and adenomatous polyposis patients in contrast to samples from normal individuals. On the contrary, the opposite range was observed for the quantification of Lactobacillus and greater numbers of bacteria (CT=28.6) were detected in normal, compared to the colorectal cancer cases and adenomatous polyposis (P<0.001).
Conclusion: The gut microbiota composition of individuals with colorectal cancer and adenomatous polyposis differs from that of healthy individuals, and the higher numbers of pathogenic microbiota versus beneficial microbiota present in those with colorectal cancer and adenomatous polyposis. In contrast, healthy individuals have higher numbers of beneficial gut microbiota than pathogenic microbes. These findings need more experimental analysis and investigation to better clarify.

Familial adenomatous polyposis, diagnosis and surveillance strategies: review article
Sima Sedighi, Maliheh Moradzadeh, Mehrdad Aghaei, Ashraf Mohamadkhani, Mohammad Hassan Jokar,
Volume 78, Issue 7 (10-2020)
Abstract
Familial adenomatous polyposis is characterized by over 100 colorectal adenomas in the colorectum. The disease equally affects both sexes, with an incidence estimated at 1.14025-1.8300. The disease is premature in people with familial adenomatous polyposis. Patients suffering from familial adenomatous polyposis have a range of extra-intestinal diseases such as papillae, gastric, small intestine, and duodenal polyps; cutaneous wounds (lipomas, fibromas, and epidermoid cysts); desmoid tumors; osteomas; nephroderma retinal pigment epithelium, including hepatoblastoma and thyroid cancers; and pancreas, biliary system, and brain cancer. Familial adenomatous polyposis is characterized by >100 polyps in the colon that are often observed on the left side of the colon and rectum. A germline mutation in the adenomatous polyposis coli gene that can be clinically and genetically diagnosed is responsible for this disease. Several methods are available for testing the adenomatous polyposis gene. Whole-gene sequencing of all adenomatous polyposis coli exons and exon-intron boundaries with maximum sensitivity for determining adenomatous polyposis coli mutations is not affordable. Another method, the protein shortening assay, correctly identifies 80% of the mutations in families who show familial adenomatous polyposis and is less expensive than complete gene sequencing. The application of a COX-2 inhibitor for chemical prevention is limited in patients showing familial adenomatous polyposis because of cardiovascular toxicity. Aspirin does not negatively impact cardiovascular diseases and is even used as primary pharmacotherapy in patients who demonstrate cardiovascular risk factors.   After 55.7 months of the diagnosis in hereditary CRC carriers, the incidence of cancer can be decreased by a dose of 600 mg/day aspirin for 25 months. After diagnosis, patients should undergo prophylactic proctocolectomy or ileoanal pouch. Undiagnosed patients having a family history of FAP must be referred to a genetic counselor and enrolled in optimal genetic and clinical surveillance programs. Recent advancements in endoscopic technology, e.g. high-resolution endoscopy, double-balloon endoscopy, and capsule endoscopy have enabled the comprehensive study of the gastrointestinal tract. Despite the limited evidence, more studies on these novel endoscopic technologies may modify the surveillance strategies for FAP patients.

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