Do NSAIDs suppress polyps in MUTYH-associated polyposis? A case report
نویسندگان
چکیده
Background MUTYH-associated polyposis (MAP) is an autosomal recessive disorder that is caused by germline mutations in the base excision repair gene MUTYH. Phenotypic expression is usually that of an attenuated polyposis syndrome with anywhere from 3-100+ polyps and mixed pathology including tubular adenomas, sessile serrated adenomas, and/or hyperplastic polyps. The use of nonsteroidal anti-inflammatory drugs (NSAIDs) has been well established as a method of polyp chemoprevention and suppression in familial adenomatous polypsis syndrome (FAP). However, while cyclooxygenase-2 expression has been confirmed in the adenomas, synchronous adenocarcinomas, and healthy mucosa in APC-/MYH+ patients, it is not well-documented if NSAIDS have any effect on polyp formation in patients with MAP.
منابع مشابه
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
AIMS AND BACKGROUND The MutY human homologue gene (MUTYH) is responsible for about a quarter of attenuated familial adenomatous polyposis. Occasionally, it has been associated with hyperplastic polyps and serrated adenoma. We report a family where the same MUTYH mutation determined four different phenotypes, including a case of hyperplastic polyposis syndrome. PATIENTS AND METHODS A family wi...
متن کاملCase Report of a New Mutation in MYH-Associated Polyposis
MYH-associated polyposis is an autosomal recessive disorder recognized in the last 10 years. Here we describe a case with a never reported mutation in MYH gene resulting in MYH-associated polyposis. Porpiglia SA, Hall JM, Meyer EJ, Forman DA, Rybak C, Fleider FD, Cooper SH and Farma MJ* Fox Chase Cancer Center, Philadelphia, USA Farma MJ, et al. Clinics in Surgery Colon and Rectal Surgery Remed...
متن کاملPrevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.
PURPOSE The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in these patients. EXPERIMENTAL DESIGN This study included 405 patients with at least 10 colonic polyps each. All cases were genetically tested for the three most frequent MUTYH mutations. Whole...
متن کاملEstablishing a diagnostic road map for MUTYH-associated polyposis.
The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based on population data.
متن کاملAn Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report
The utilization of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilized more frequently in hereditary cancer testing. While this has benefits of reducing cost and allowing clinicians to cast a wide net in the elucidation of their patient's cancer, panel testing has the potential to reveal unexpected information. We report on a proband with pathoge...
متن کامل