A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome.
ABSTRACT In 1997, hereditary mixed polyposis syndrome (HMPS) was described in an Ashkenazi pedigree having colorectal polyps with mixed histology and risk for colorectal cancer (CRC). The mutation is now localized to 15q13-14. Since 1980, compliant relatives of an HMPS family were seen annually, tested genetically, and had colonoscopy offered every 1 to 2 yr from age 20 yr. The Israeli pedigree has 37 members (17 clinically affected by CRC or polyps), and seven of 13 available relatives entered our screening program. The others, followed-up elsewhere, provided clinical information. Half of our screened group had rectal bleeding; others were asymptomatic. Colonoscopy, performed a mean of four times, identified polyps in all seven patients (mean age 28 yr). Polyps were removed and included juvenile adenomas, mixed juvenile adenomas, hyperplastic polyps, mixed hyperplastic adenomas, serrated adenomas, and tubular adenomas. None of our screened patients developed CRC or extracolonic neoplasia. Linkage analysis localized their mutation to 15q13-14. This high-penetrance founder mutation so far is described only in Ashkenazim. The CRC pathway seems to be through juvenile and hyperplastic polyps. Mutation identification will aid screening for and evaluation of HMPS prevalence in Jewish and non-Jewish populations. Meanwhile, a cancer pedigree and correct classification of polyps will identify HMPS families. They require early and frequent colonoscopy, polypectomy, and elective extensive colectomy when indicated.
SourceAvailable from: Nils RahnerZeitschrift für Gastroenterologie 08/2013; 51(8):753-854. DOI:10.1055/s-0033-1350264 · 1.67 Impact Factor
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ABSTRACT: Serrated neoplasia of the gastro-intestinal tract have peculiar microscopic and molecular features that are still incompletely described. Some serrated polyps seem to be involved in a new carcinogenic pathway in the colon: the serrated neoplasia pathway, with hypermethylation of the cytosine-guanine dinucleotides, located in the promoter of some genes such as h-MLH1, BRAF and MGMT. The natural history of the serrated polyps and their risk for progression to malignancy are still unclear. There is no official guideline for the management of serrated polyps. The aim of this article is to describe the epidemiological, morphological, immunohistochemical and molecular characteristics of the serrated neoplasia of the gastrointestinal tract: hyperplastic polyps, “traditional” serrated adenomas, mixed hyperplastic and adenomatous polyps, sessile serrated adenomas, hyperplastic polyposis and serrated adenocarcinomas.Annales de Pathologie 04/2006; 26(2):86-96. DOI:10.1016/S0242-6498(06)70687-3 · 0.29 Impact Factor
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ABSTRACT: Hereditary mixed polyposis syndrome (HMPS) is a rare condition of unknown genetic origin. The paper presents 25-year clinical follow up in a female patient with multiple gastrointestinal tract polyps of varied histology. They most likely served as sites of multiple colorectal cancers development. The clinical course is interesting in terms of diagnostics and therapy. The patient required extended genetic testing, intensive conservative treatment and numerous surgical procedures. This is the first case of HMPS presented in Polish publications.Polish Journal of Surgery 05/2012; 84(5):262-6. DOI:10.2478/v10035-012-0044-x