A case of familial polyposis coli in association with hepatocellular and gastric carcinoma is reported. No similar case has ever been documented in the world literature. This may be surprising as it is well known that familial polyposis has a potent oncogenicity not only in the colon but also in extracolonic organs.
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http://dx.doi.org/10.1002/jso.2930380107 | DOI Listing |
Clin Exp Pediatr
January 2025
Nationwide Children's Hospital, Columbus, United States.
Adenomatous Polyposis Coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial adenomatous polyposis (FAP). We present a rare case of palatal peripheral nerve sheath tumor in the context of APC gene mutation.
View Article and Find Full Text PDFAnn Gastroenterol
December 2024
Department of Gastroenterology, Center for Advanced Therapeutic Endoscopy at Porter Adventist Hospital (Douglas G. Adler).
Background: Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is a common surgical procedure for ulcerative colitis and familial adenomatous polyposis. IPAA strictures are a known complication, often requiring surgical intervention. Endoscopic interventions offer a less invasive alternative, but their safety and efficacy remain uncertain.
View Article and Find Full Text PDFAm J Gastroenterol
December 2024
Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Objectives: To prevent colorectal cancer (CRC), most patients with familial adenomatous polyposis (FAP) undergo (procto)colectomy with ileorectal anastomosis (IRA) or ileal pouch-anal anastomosis (IPAA). After surgery, these patients remain at risk of developing cancer in the remnant rectum or rectal cuff/pouch. We aimed to compare the long-term risk of cancer following IRA or IPAA in FAP.
View Article and Find Full Text PDFBJS Open
December 2024
Unit of Hereditary Digestive Tract Tumours, Fondazione IRCCS Istituto Nazionale dei Tumouri, Milan, Italy.
Background: Familial adenomatous polyposis is a cancer-predisposing syndrome caused by germline pathogenic variants of the adenomatous polyposis coli gene, leading to numerous colorectal polyps and a high risk of colorectal cancer. Desmoid tumours have become significant in the management of familial adenomatous polyposis after a colectomy, yet the exact incidence remains undetermined due to a lack of dedicated surveillance.
Methods: This retrospective study accessed data from the prospectively maintained Hereditary Digestive Tumours Registry from 2000 to 2023.
Transgenic Res
January 2025
Laboratory of Cell and Developmental Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Videnska 1083, 142 20, Prague 4, Czech Republic.
Proto-oncogene KRAS, GTPase (KRAS) is one of the most intensively studied oncogenes in cancer research. Although several mouse models allow for regulated expression of mutant KRAS, selective isolation and analysis of transforming or tumor cells that produce the KRAS oncogene remains a challenge. In our study, we present a knock-in model of oncogenic variant KRAS that enables the "activation" of KRAS expression together with production of red fluorescent protein tdTomato.
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