Family History Of Colorectal Polyps Research Articles

MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps

Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognized as a rare cause of adenomatous polyposis. We present a 49-year-old woman who was admitted to our high-risk colorectal cancer clinic after incidental detection of a biallelic MSH3 (likely) pathogenic variant when tested for the germline (likely) pathogenic variants in hereditary breast and ovarian cancer related genes. The focus of this case report is to describe the genotype and phenotype of our patient with MSH3-related adenomatous polyposis. More than half of the polyps (13/19) were located in the right colon. In addition, benign and malignant extraintestinal lesions may be common as our patient had simple liver and kidney cysts and two basal cell skin carcinomas.

MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps

Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognized as a rare cause of adenomatous polyposis. We present a 49-year-old woman who was admitted to our high-risk colorectal cancer clinic after incidental detection of a biallelic MSH3 (likely) pathogenic variant when tested for the germline (likely) pathogenic variants in hereditary breast and ovarian cancer related genes. The focus of this case report is to describe the genotype and phenotype of our patient with MSH3-related adenomatous polyposis. More than half of the polyps (13/19) were located in the right colon. In addition, benign and malignant extraintestinal lesions may be common as our patient had simple liver and kidney cysts and two basal cell skin carcinomas.

Inflammatory cloacogenic polyps in children: diagnostic yield of rectal retroflexion during colonoscopy

Background and aimsInflammatory cloacogenic polyps (ICPs) are inflammatory lesions occurring around the anal transitional zone. These are rare in the pediatric population, and most reported cases are found in adults. Therefore, this study aimed to evaluate the usefulness of rectal retroflexion (RR) during colonoscopy in detecting ICPs in children.MethodsA total of 1837 colonoscopies were performed in 1278 children between September 2003 and August 2020 at the Seoul National University Bundang Hospital. The laboratory test results and colonoscopic and histopathological findings were retrospectively reviewed. ICP was detected using the RR and was diagnosed based on the histologic findings of the polyp.ResultsA total of 69 patients were diagnosed with juvenile polyps (n = 62) or ICP (n = 7), with the latter being detected through RR. All children with ICP were diagnosed from 2013 onwards when RR during colonoscopy came to be routinely performed in our medical center. The patients with ICP were older at diagnosis and more associated with a family history of colorectal polyps than JP. Stool occult blood and the polyps’ endoscopic characteristics, such as number, location, volume, and shape, significantly varied between the two groups. Additionally, there was a statistically significant difference in the polypectomy method. During the long-term follow-up, there was no recurrence of ICP.ConclusionsDue to their location at the anorectal junction, ICPs may be overlooked during colonoscopy, leading to misdiagnosis. Therefore, a retroflexion view during colonoscopy may help detect ICPs in pediatric patients, especially those presenting with hematochezia.

Risk of colorectal cancer in first degree relatives of patients with colorectal polyps: nationwide case-control study in Sweden

ObjectiveTo assess the risk of colorectal cancer (CRC) in first degree relatives (parents and full siblings) of patients with precursor lesions (polyps) for CRC.DesignCase-control study.SettingLinkage to the multi-generation register and...

Diagnosis and management of a solitary colorectal juvenile polyp in an adult during follow-up for ulcerative colitis: A case report

BACKGROUNDJuvenile polyps are the most common type of polyps in children but are rare in adults. Inflammatory bowel disease (IBD) patients have a similar spectrum of symptoms as patients with juvenile polyps. Both patients with juvenile polyps and those with active IBD have high fecal calprotectin levels. Four cases of children with ulcerative colitis (UC) with solitary juvenile polyps and one case of an adult with UC with juvenile polyposis syndrome have been reported upon diagnosis of UC, while there have been no cases of adults with UC with solitary juvenile polyp reported in the literature.CASE SUMMARYA 37-year-old man with a 12-year history of UC was admitted to our clinic because of increased stool frequency. UC was diagnosed at the age of 25. As the lesion was confined to the rectum, sulfasalazine suppositories or mesalazine suppositories were used. The patient was followed in an outpatient clinic, and colonoscopy was performed every one or two years. The latest examination was undertaken three years prior in the presence of proctitis. Recently, the patient complained of three to five bowel movements a day. There was mucus in the stool but no visible blood. Colonoscopy revealed a solitary polyp, about 1.5 cm in diameter, with a short and broad peduncle in the transverse colon surrounded by congestive and edematous mucosa. The patient had no family history of colorectal polyps or cancer. The polyp was successfully removed by endoscopic mucosal resection. Histopathological examination revealed that the polyp was a juvenile polyp without any malignant signs. Immunohistochemical staining for p53 showed wild-type expression and p53 overexpression was not detected. Ki-67 labeling index was 3%.CONCLUSIONThis is the first case of an adult UC patient with a solitary juvenile polyp at the 12-year follow-up. The correlation between juvenile polyps and the activity of IBD needs further study.

Comparison of 64-Detector CT Colonography and Conventional Colonoscopy in the Detection of Colorectal Lesions.

Background:Colon cancer is a leading cause of morbidity and mortality in developed countries. The early detection of colorectal cancer using screening programs is important for managing early-stage colorectal cancers and polyps. Modalities that allow examination of the entire colon are conventional colonoscopy, double contrast barium enema examination and multi-detector computed tomography (MDCT) colonography.Objectives:To compare CT colonography and conventional colonoscopy results and to evaluate the accuracy of CT colonography for detecting colorectal lesions.Patients and Methods:In a prospective study performed at Gastroenterology and Radiology Departments of Medical Faculty of Eskisehir Osmangazi University, CT colonography and colonoscopy results of 31 patients with family history of colorectal carcinoma, personal or family history of colorectal polyps, lower gastrointestinal tract bleeding, change in bowel habits, iron deficiency anemia and abdominal pain were compared. Regardless of the size, CT colonography and conventional colonoscopy findings for all the lesions were cross - tabulated and the sensitivity, specificity, and positive and negative predictive values were calculated. To assess the agreement between CT colonography and conventional colonoscopy examinations, the Kappa coefficient of agreementt was used. Statistical analysis was performed by SPSS ver 15.0.Results:Regardless of the size, MDCT colonography showed 83% sensitivity and 95% specificity, with a positive predictive value of 95% and a negative predictive value of 83% for the detection of colorectal polyps and masses. MDCT colonography displayed 92% sensitivity and 95% specificity, with a positive predictive value of 92% and a negative predictive value of 95% for polyps ≥ 10 mm. For polyps between 6mm and 9 mm, MDCT colonography displayed 75% sensitivity and 100% specificity, with a positive predictive value of 100% and a negative predictive value of 90%. For polyps ≤ 5 mm MDCT colonography displayed 88% sensitivity and 100% specificity with a positive predictive value of 100% and a negative predictive value of 95%.Conclusions:CT colonography is a safe and minimally invasive technique, a valuable diagnostic tool for examining the entire colon and a good alternative compared to other colorectal cancer screening tests because of its high sensitivity values in colorectal lesions over 1 cm.

Tu1477 Gastroenterologists Are Moderately Accurate in Predicting the Surveillance Interval Based on Subjection Diagnosis of Colorectal Polyps

Factors independent from pathology, such a personal or family history of colorectal polyps or cancer, and quality of the bowel preparation, in addition to subjective assessment of the likely histology of the polyps can drive the surveillance interval recommendation. As such, we would provide the likely recommended surveillance interval on our procedure report and send a follow up confirmatory letter when histopathology results became available. We aimed to study the accuracy of our surveillance interval recommendations prior to the availability of Optical Diagnosis.

Results from a Colonoscopy Based Screening Program for the Uninsured: A Pilot Study from South Carolina

Purpose: The purpose of our study was to screen through colonoscopy a racially diverse, uninsured population in rural South Carolina (SC). Methods: 150 patients aged 42 to 64 years were recruited from four free medical clinics and one federally qualified health center in 2008 and 2009. Participants were residents of rural counties in South Carolina. We targeted four counties because of the high incidence of colorectal cancer within this region. The screening program was made possible by a grant from the Blue-Cross BlueShield Foundation of South Carolina and a partnership between the SC Gastroenterology Association and the Center for Colon Cancer Research at USC. Each patient underwent a screening colonoscopy by a board certified gastroenterologist, at no charge to the patient. Participants completed a brief questionnaire addressing basic demographic characteristics, medical history and family history of polyps and/or colorectal cancer. To assess the association between colorectal lesions and personal risk factors, we estimated risk ratios and 95% confidence intervals for one or more adenomas using generalized linear regression analyses using a logarithmic linkage and a Poisson distribution adjusted for age and gender. Results: The average age of subjects was 55.2 years (SD 4.9), 30% were male, and 54% were African American (AA). The majority of our participants were unemployed (70%) and almost all were uninsured (98.5%). 13% of patients reported a family history of colorectal polyps and 25% reported a family history of colorectal cancer. Overall, we observed that 36.5% of patients had at least one adenoma while 14% had at least one hyperplastic polyp. We found that women had a non-significantly lower risk of adenomas compared to men. AAs compared to Caucasians were more likely to have a greater number of adenomas (RR 1.23 (95% CI 0.79-1.93)), and more advanced histology neoplasms (RR 3.21 (0.92-11.19)) and were less likely to have hyperplastic polyps (RR 0.32 (95% CI 0.13-0.78). We observed that a family history of colorectal polyps (RR 1.84 (95% 1.05-3.20)) or colorectal cancer (RR 1.53 (95% CI 0.95-2.47) was associated with an increased risk of adenomas compared to those reporting no family history of colorectal neoplasia. Conclusion: Our study demonstrates that a colonoscopy based screening program in a racially diverse and medically underserved cohort is feasible. Furthermore, we found that AAs and those with a family history of colonic polyps or cancer are at increased risk of colorectal neoplasia. Our results point to the importance of the index colonoscopy and availability of follow-up surveillance exams to reduce the incidence of colorectal cancer in South Carolina and beyond.

Microsatellite instability and MLH1 hypermethylation – incidence and significance in colorectal polyps in young patients

Microsatellite instability (MSI) is observed in most hereditary nonpolyposis colorectal cancer-related colorectal cancers (CRC). The original Bethesda criteria recommends MSI testing in patients <or=40 years diagnosed with adenomas. We aimed to determine the incidence of MSI and the presence of hypermethylation of the promoter site of the MLH1 gene in these polyps. Patients aged <or=40 years diagnosed with colonic polyps removed endoscopically from 1998 to 2003 were identified and their charts reviewed. DNA extractions were performed and tested for MSI at the Bethesda Consensus recommended loci. Samples were characterized by immunohistochemical staining of the four mismatch repair (MMR) proteins. MLH1 hypermethylation was assessed using a real-time methylation-specific polymerase chain reaction (PCR). The appropriate statistical analyses were applied. 23 patients with 38 polyps were analysed. Eight patients had a positive family history colorectal polyp, 11 a family history of CRC. No significant correlation between a family history of colorectal polyps or cancer and polyp location was found. About 53% of the polyps were tubulo-adenomas and 27% tubulovillous adenomas. Immunohistochemistry (IHC) staining revealed appropriate expression of the MMR proteins in all samples. None of the polyps exhibited MSI. MLH1 'A' hypermethylation was present in 16% of the polyps. No hypermethylation was observed at region 'C'. A positive family history of colorectal polyps and cancer were associated with a higher incidence of MLH1 'A' hypermethylation. There was no determinable correlation between the clinico-pathological features of the polyp with MLH1 hypermethylation. MLH1 HM was found in approximately 16% of polyps found in young patients and represents one of the epigenetic changes that may result in the subsequent progression to carcinoma along an accelerated sequence. The yield of MSI testing in these patients is low and is not recommended.

Computed tomographic colonography compared with colonoscopy in patients at increased risk for colorectal cancer

Background & Aims: To date, computed tomographic (CT) colonography has been compared with an imperfect test, colonoscopy, and has been mainly assessed in patients with positive screening test results or symptoms. Therefore, the available data may not apply to screening of patients with a personal or family history of colorectal polyps or cancer (increased risk). We prospectively investigated the ability of CT colonography to identify individuals with large (≥10 mm) colorectal polyps in consecutive patients at increased risk for colorectal cancer. Methods: A total of 249 consecutive patients at increased risk for colorectal cancer underwent CT colonography before colonoscopy. Two reviewers interpreted CT colonography examinations independently. Sensitivity, specificity, and predictive values were determined after meticulous matching of CT colonography with colonoscopy. Unexplained large false-positive findings were verified with a second-look colonoscopy. Results: In total, 31 patients (12%) had 48 large polyps at colonoscopy. This included 8 patients with 8 large polyps that were overlooked initially and detected at the second-look colonoscopy. In 6 of 8 patients, the missed polyp was the only large lesion. With CT colonography, 84% of patients (26/31) with large polyp(s) were identified, paired for a specificity of 92% (200–201/218). Positive and negative predictive values were 59%–60% (26/43–44) and 98% (200–201/205–206), respectively. CT colonography detected 75%–77% (36–37/48) of large polyps, with 9 of the missed lesions being flat. Conclusions: CT colonography and colonoscopy have a similar ability to identify individuals with large polyps in patients at increased risk for colorectal cancer. The large proportion of missed flat lesions warrants further study.

Screening strategies for colorectal cancer: a systematic review of the evidence.

Colorectal cancer is the third most common cancer in Canada. It is well recognized that there are improved survival rates if the disease is treated in its early stages, and indeed this may be a preventable disease. This paper systematically reviews the effectiveness of specific screening techniques for colorectal cancer in asymptomatic individuals at normal or above average risk. MEDLINE was searched for articles published between January 1966 and January 2001 by using the MESH terms 'screening' and 'colorectal neoplasia'. The reference sections of review articles published before January 2001 were checked, and content experts were surveyed. The evidence was evaluated using the standardized methodology of the Canadian Task Force on Preventive Health Care. For individuals at normal risk, there is evidence to support the use of annual or biennial fecal occult blood testing and flexible sigmoidoscopy for asymptomatic individuals over age 50 years. The evidence regarding whether only one or both of fecal occult blood testing and sigmoidoscopy should be performed is unclear, as is the evidence regarding the use of colonoscopy as an initial screen. For individuals at above average risk, the evidence supports either genetic testing or flexible sigmoidoscopy of individuals at risk in familial adenomatous polyposis kindreds, and screening with colonoscopy of patients in kindreds with hereditary nonpolyposis colon cancer. The evidence regarding colonoscopy for individuals who have a family history of colorectal polyps or cancer but do not fit the criteria for hereditary nonpolyposis colon cancer is unclear. Development of better risk stratification for screening is a high research priority, and further research, including randomized, controlled trials, into the effectiveness and feasibility of other screening modalities is necessary.

Risk of colon cancer associated with a family history of cancer or colorectal polyps: the diet, activity, and reproduction in colon cancer study.

The Diet, Activity, and Reproduction in Colon Cancer (DARCC) study is a large, multi-center case-control study of colon cancer. We examined family histories of cancer among first-degree relatives obtained by computer-assisted in-person interviews from the DARCC to study the impact of family histories of several cancers and colorectal polyps on colon cancer risk. We examined familial cancer risks both by treating a family history of polyps or cancer as a covariate in a logistic regression model, and by comparing cancer or polyp incidence among relatives of cases to incidence among relatives of controls in a proportional hazards model. There were few differences between the odds ratios (OR) or confidence intervals (CI) generated from logistic regression models and the hazard rate ratios (HRR) generated from the proportional hazards models. Overall, the OR of colon cancer among subjects with a family history of colorectal cancer was 1.77. There were only minor differences in risk by sex, age and subsite. A family history of colorectal polyps also increased risk by about the same amount as a family history of colorectal cancer. The increased risk associated with a family history of polyps did not appear to decrease with age.

Flexible sigmoidoscopy as a screening procedure for asymptomatic colorectal carcinoma in patients with inguinal hernia.

In patients about to have hernia repair, preoperative screening studies for early colorectal cancer using the rigid proctosigmoidoscope and barium enema have previously shown minimal cost effectiveness and poor patient acceptance. Flexible sigmoidoscopy may be more acceptable to patients and of greater diagnostic value. Between October 1980 and December 1983, 100 consecutive asymptomatic male surgical patients were examined using the Olympus 60 flexible proctosigmoidoscope. All patients were admitted for elective hernia repair. Age ranged from 21 to 88 years (mean 59.7). All patients with stool positive for occult blood on admission were excluded from this study. In addition, patients with any gastrointestinal symptoms, history of colorectal disease, or family history of colorectal polyps or carcinoma were excluded. Examinations were done under direct supervision of an attending surgeon (W.W. or C.S.C.). Of the 22 patients who had one or more benign polyps, three had villous adenomas. Two additional patients had carcinoma. Results of examination were completely normal in 63, while 13 patients were found to have hemorrhoids or diverticular disease. There were no complications and the procedure was well tolerated by all patients.