Microsatellite instability in colorectal adenomas and hyperplastic polyps in Lynch syndrome
نویسندگان
چکیده
Background Lynch syndrome is characterized by germline mutations in DNA mismatch repair (MMR) genes and carries up to a 70% lifetime risk of colorectal cancer. Impaired MMR gene function results in an abundance of small aberrant nucleotide repeat sequences termed microsatellite instability (MSI). MSI is present in 80-85% of colorectal cancers associated with Lynch syndrome. Prior studies have demonstrated that MMR gene function (as measured by immunohistochemistry) is often lost in Lynch-associated adenomas but is preserved in hyperplastic polyps. The aim of our study was to evaluate the prevalence of MSI in adenomatous and hyperplastic polyps from individuals with Lynch Syndrome.
منابع مشابه
Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps.
Colorectal cancers associated with Lynch syndrome are characterized by deficient DNA mismatch repair (MMR) function. Our aim was to evaluate the prevalence of microsatellite instability (MSI) and loss of MMR protein expression in Lynch syndrome-associated polyps. Sixty-two colorectal polyps--37 adenomatous polyps, 23 hyperplastic polyps, and 2 sessile serrated polyps (SSP)--from 34 subjects wit...
متن کاملDNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer?
AIM To investigate the distribution of DNA microsatellite instability (MSI) in a series of hyperplastic polyps, serrated adenomas, and mixed polyps of the colorectum. METHODS DNA was extracted from samples of 73 colorectal polyps comprising tubular adenomas (23), hyperplastic polyps (21), serrated adenomas (17), and mixed polyps (12). The presence of MSI was investigated at six loci: MYCL, D2...
متن کاملComparative molecular pathology of sporadic hyperplastic polyps and neoplastic lesions from the same individual.
AIM The biology of colorectal hyperplastic polyps is of considerable relevance, because recent evidence suggests that under certain circumstances hyperplastic polyps may be precursors of neoplasms. The aim of this study was to assess and compare the clinical and molecular characteristics of hyperplastic polyps and neoplastic lesions removed from patients without the hyperplastic polyposis syndr...
متن کاملDNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer.
BACKGROUND AND AIM Hereditary non-polyposis colorectal cancer (HNPCC), as its name implies, is associated with few adenomas, and the early evolution of colorectal neoplasia is poorly understood. In this study our aim was to clarify the genetic profiles of benign polyps in subjects with HNPCC using a combined molecular and immunohistochemical approach. METHODS Thirty adenomas and 17 hyperplast...
متن کاملMissed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer).
BACKGROUND AND AIMS Lynch syndrome (also known as hereditary nonpolyposis colon cancer) is associated with an increased risk for colorectal cancer, which can arise despite frequent colonoscopic exams. We evaluated the adenoma miss rate of conventional colonoscopy in patients with Lynch syndrome, and compared the sensitivity of chromoendoscopy versus intensive inspection for detecting polyps mis...
متن کامل