Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis
| Jazyk: | English |
|---|---|
| ISSN: | 0016-5085 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13f2eb5036526f04c54f43e740a5b4b https://pure.amc.nl/en/publications/hyperplastic-polyps-and-sessile-serrated-adenomas-as-a-phenotypic-expression-of-myhassociated-polyposis(ac90f330-8071-4477-b620-796a68327000).html |
| Rights: | RESTRICTED |
| Přírůstkové číslo: | edsair.doi.dedup.....f13f2eb5036526f04c54f43e740a5b4b |
| Autor: | Karam S. Boparai, Evelien Dekker, Susanne van Eeden, Mirjam M. Polak, Joep F.W.M. Bartelsman, Elisbeth M.H. Mathus–Vliegen, Josbert J. Keller, Carel J.M. van Noesel |
| Přispěvatelé: | Gastroenterology and Hepatology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Pathology |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Pathology
medicine.medical_specialty Hepatology integumentary system business.industry Colorectal cancer MUTYH-Associated Polyposis Gastroenterology medicine.disease Germline eye diseases Familial adenomatous polyposis Hyperplastic Polyp MUTYH Internal medicine medicine Mutation testing Allele business |
| Zdroj: | Gastroenterology, 135(6), 2014-2018. W.B. Saunders Ltd |
| ISSN: | 0016-5085 |
| Popis: | BACKGROUND & AIMS: MYH-associated polyposis (MAP) is a disorder caused by a bi-allelic germline MYH mutation, characterized by multiple colorectal adenomas. These adenomas typically harbor G:C-->T:A transversions in the APC and K-ras genes caused by MYH deficiency. Occasional hyperplastic polyps (HPs) have been described in MAP patients but a causal relationship has never been investigated. We examined the presence of HPs and sessile serrated adenomas (SSAs) in 17 MAP patients and studied the occurrence of G:C-->T:A transversions in the APC and K-ras gene in these polyps. METHODS: MAP patients were analyzed for the presence of HPs/SSAs. APC-mutation cluster region and K-ras codon 12 mutation analysis was performed in adenomas (n = 22), HPs (n = 63), and SSAs (n = 10) from these patients and from a control group of sporadic adenomas (n = 17), HPs (n = 24), and SSAs (n = 17). RESULTS: HPs/SSAs were detected in 8 of 17 (47%) MAP patients, of whom 3 (18%) met the criteria for hyperplastic polyposis syndrome. APC mutations were detected only in adenomas and comprised exclusively G:C-->T:A transversions. K-ras mutations were detected in 51 of 73 (70%) HPs/SSAs in MAP patients, compared with 7 of 41 (17%) sporadic HPs/SSAs in the control group (P T:A transversions, compared with 2 of 7 (29%) sporadic HPs/SSAs in the control group (P T:A transversions in the K-ras gene of HPs/SSAs strongly suggests that these polyps are related causally to MYH deficiency. This implies that distinct pathways, that is, APC-gene related in adenomas and nonrelated in HPS/SSAs, appear to be operational in MAP |
| Databáze: | OpenAIRE |
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