Gastrointestinal polyps and polyp syndromes in adolescents.

Adolesc Med Clin

Division of Molecular Medicine and Gastroenterology, Columbus Children's Hospital, Columbus Children's Research Institute and The Ohio State University College of Medicine and Public Health, Columbus, OH 43205, USA.

Published: February 2004

Although gastrointestinal polyps are more common in the first decade of life than during adolescence, underlying genetic polyposis syndromes are more likely in adolescents. In the past decade, the discovery of gene defects associated with polyposis syndromes has improved classification of these disorders, assisted in the stratification of cancer risk, and permitted more precise diagnosis. Genetic testing is now clinically available for the gene defects that occur in familial adenomatous polyposis coli, Peutz-Jeghers syndrome, Cowden syndrome, and juvenile polyposis syndrome. This review outlines clinical features, genetics, and management strategies for the major polyposis syndromes that affect adolescents.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.admecli.2003.11.013DOI Listing

Publication Analysis

Top Keywords

polyposis syndromes
12
gastrointestinal polyps
8
syndromes adolescents
8
gene defects
8
polyposis
5
polyps polyp
4
syndromes
4
polyp syndromes
4
adolescents gastrointestinal
4
polyps common
4

Similar Publications

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 PDF

Genetic predisposition to polyposis syndromes.

Clin Transl Oncol

January 2025

Hereditary Cancer Unit, Medical Oncology Department, Puerta de Hierro University Hospital, Majadahonda, 28222, Madrid, Spain.

Hereditary polyposis syndromes are significant contributors to colorectal cancer (CRC). These syndromes are characterized by the development of various types and numbers of polyps, distinct inheritance patterns, and extracolonic manifestations. This review explores these syndromes with a focus on their genetic characteristics.

View Article and Find Full Text PDF

An increasing number of autosomal recessive forms of adenomatous polyposis have been described, but some in very few cases. Here, we describe a rare case of biallelic germline pathogenic variants in the MLH3 gene, implicating it as a potential cause of early colorectal cancer. The patient, a 47-year-old woman, presented with rectal bleeding, leading to the discovery of a malignant rectal tumor and adenomas during colonoscopy.

View Article and Find Full Text PDF

FDG PET/CT in a Case of Gardner Syndrome.

Clin Nucl Med

December 2024

From the Department of Neurology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine.

Gardner syndrome is characterized by multiple intestinal polyps and extraintestinal lesions. We describe FDG PET/CT findings of the extraintestinal lesions in a patient with Gardner syndrome. FDG PET/CT showed 2 hypermetabolic desmoid tumors in the abdominal wall, sclerotic areas with multifocal activity in the maxilla and mandible, multiple osteomas in the bilateral parietal, left frontal, sphenoid and ethmoid bones, an impacted tooth in the right maxilla, and bone islands in the T2 and T5 vertebral bodies.

View Article and Find Full Text PDF

Risk factors and protective measures for desmoid tumours in familial adenomatous polyposis: retrospective cohort study.

BJS 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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!