BACKGROUND Patients with hamartomatous polyposis syndromes have increased risk for colorectal cancer (CRC). Although progression of polyps to carcinoma is observed, pathogenic mechanisms remain unknown. The authors examined whether familial hamartomatous polyps harbor defects in DNA mismatch repair (MMR), and assayed for somatic mutation of PTEN, a gene inactivated in the germline of some hamar...

Abstract Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ∼ 3% to 6% all CRCs are related inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The coli (APC) mutY DNA glycosylase (MUTYH) germline mutations the main genetic causes polyposis. Nevertheless, in many these genes have not been identified. aim present case report is descr...

BACKGROUND/AIMS A flexible spectral imaging color enhancement system was installed in new capsule software for video capsule endoscopy. Contrast image capsule endoscopy (CICE) is a novel technology using light-emitting diodes selected for the main absorption range of hemoglobin. We assessed the feasibility and diagnostic effi cacy for small bowel surveillance in patients with polyposis syndrome...

Six patients from one family and one solitary patient with juvenile polyposis coli are described. The histological changes in colonic polyps formed a spectrum from juvenile polyps, through focal to extensive adenomatous change, to adenocarcinomas. One patient aged 49 years had an adenocarcinoma of the colon and in another, aged 33, with rectal polyps and metastatic cancer this was suspected alt...

AIM To test the fujinon intelligent color enhancement (FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis (FAP) patients. METHODS Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodeno...

background: the association between adenomatous polyps and malignancy has an important role in patient screening and follow up after polypectomy. due to less attraction towards the segmental resection, colonoscopic evaluation of malignancy has found its utmost importance role. polyp size and morphology have dictated the potential of malignancy in prior studies, however, in recent decade some au...

Other names: Malignant tumors of the central nervous system associated with familial polyposis of the colon. Note: Turcot syndrome (TS) is characterized by the association of colonic polyps and central nervous system tumors. The relative risk of cerebral tumor in patients with familial adenomatous polyposis is considered 92 times more that found in the general population. The predominant brain ...

Multiple colonic polyps, almost guaranteed colorectal cancer by the age of forty-five and an increased risk of non-colonic cancers characterise the autosomal dominant condition Familial Adenomatous Polyposis (FAP) 1. The patients and families faced with such a diagnosis present many difficult management challenges, both surgical and non-surgical. We discuss the current surgical options for trea...

BACKGROUND Telomere shortening, dysfunction, and fusion may facilitate the acquisition of large-scale genomic rearrangements, driving clonal evolution and tumor progression. The relative contribution that telomere dysfunction and/or APC mutation play in the chromosome instability that occurs during colorectal tumorigenesis is not clear. METHODS We used high-resolution telomere length and fusi...