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.2003.11.013 | 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 PDFClin 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 PDFClin Genet
January 2025
Department of Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
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 PDFClin 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 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.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!