Risk factors: Hyperplastic polyposis syndrome and risk of colorectal cancer

Familial Cancer Laboratory, QIMR, 300 Herston Road, Herston Q 4006, Australia.
Nature Reviews Gastroenterology &#38 Hepatology (Impact Factor: 12.61). 11/2010; 7(11):594-5. DOI: 10.1038/nrgastro.2010.166
Source: PubMed


hyperplastic polyposis syndrome is a widely accepted, but poorly understood, risk factor for colorectal cancer. a recent report has laid the foundations for improving the management of patients with this enigmatic disorder by identifying the features associated with colorectal cancer risk, as well as estimating the magnitude of this risk.

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    • "Patients with SPS are at increased risk for CRC with the actual risk yet to be defined from prospective studies [111]. First-degree relatives are also at increased risk of CRC [112, 113], justifying the recommendation for screening colonoscopy in first-degree relatives aged at least 40 years or aged 10 years younger than the age of diagnosis of the youngest relatives [68, 114]. Further colonoscopy is recommended at 5-year intervals or more frequently if polyps are detected. "
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    ABSTRACT: Approximately 30 % of colorectal carcinomas develop via the serrated neoplasia pathway characterized by widespread DNA methylation and frequent BRAF mutation. Serrated polyps represent a heterogeneous group of polyps which are the precursor lesions to serrated pathway colorectal carcinomas. The histological classification of serrated polyps has evolved over the last two decades to distinguish three separate entities: hyperplastic polyp, sessile serrated adenoma (SSA), and traditional serrated adenoma (TSA). The malignant potential of SSAs and TSAs has been clearly demonstrated. SSAs are more challenging to detect by colonoscopy and are likely to account for some interval carcinomas of the proximal colon. Serrated polyposis syndrome is now widely recognized as conferring a high risk of colorectal carcinoma although its cause remains elusive. The current understanding of the actual malignant potential of each serrated polyp subtype is still limited due to the lack of large-scale prospective studies. Patient management guidelines have been recently updated although high-level evidence to support them is still required.
    Journal of Gastroenterology 12/2012; 48(3). DOI:10.1007/s00535-012-0720-y · 4.52 Impact Factor
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    • "Serrated polyposis is a condition with an increased CRC risk to both individuals and their relatives. An understanding of the mechanism of malignant transformation in serrated polyposis is still evolving, along with the risk factors which influence it [96]. Without a known germline sequence variant and estimated genetic penetrance, the identification and management of individuals and their families with a CRC predisposition syndrome become increasingly problematical. "
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    ABSTRACT: Serrated polyposis has only recently been accepted as a condition which carries an increased personal and familial risk of colorectal cancer. Described over four decades ago, it remains one of the most underrecognized and poorly understood of all the intestinal polyposes. With a variety of phenotypic presentations, it is likely that serrated polyposis represents a group of diseases rather than a single entity. Further, neoplastic progression in serrated polyposis may be associated with premature aging in the normal mucosa, typified by widespread gene promoter hypermethylation. From this epigenetically altered field, arise diverse polyps and cancers which show a range of molecular features. Despite a high serrated polyp count, only one-third of colorectal cancers demonstrate a BRAF V600E mutation, the molecular hallmark of the canonical serrated pathway, suggesting that though multiple serrated polyps act as a marker of an abnormal mucosa, the majority of CRC in these patients arise within lesions other than BRAF-mutated serrated polyps.
    Pathology Research International 05/2011; 2011:157073. DOI:10.4061/2011/157073
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    ABSTRACT: Polyposissyndrome des Magendarmtrakts sind für etwa 1% aller kolorektalen Karzinome verantwortlich, daneben besteht ein breites Spektrum extrakolonischer Manifestationen. Die Verdachtsdiagnose basiert auf dem endoskopischen Befund und der Polypenhistologie. Die Abgrenzung klinisch ähnlicher Formen wie der autosomal-dominanten familiären adenomatösen Polyposis (FAP) und der autosomal-rezessiven MUTYH-assoziierten Polyposis (MAP) gelingt oft nur durch den molekulargenetischen Befund. Bei klaren Genotyp-Phänotyp-Beziehungen sind z. T. auch prognostische Aussagen möglich. Voraussetzung für die genaue Einschätzung des Wiederholungsrisikos und die prädiktive Testung von Risikopersonen ist der Mutationsnachweis bei einer erkrankten Person. Abgesehen von der milden adenomatösen Polyposis bereiten die klinischen Überlappungen hamartomatöser Polyposissyndrome häufig differenzialdiagnostische Probleme. Neben den monogenen Polyposen existieren zahlreiche, teilweise schlecht definierte nichterbliche oder nicht ursächlich geklärte Formen wie die hyperplastische Polyposis. Die frühe Erkennung und korrekte Einordnung einer Polyposis ist entscheidend, da für die häufigeren Formen effektive Methoden der Vorsorge und Therapie bestehen.
    Der Internist 04/2012; 53(4). DOI:10.1007/s00108-011-2984-3 · 0.31 Impact Factor
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