Intestinal polyposis syndromes are relatively rare. However, it is important for clinicians to recognize the potential risks of these syndromes. Based on histology, these syndromes can be classified mainly into hamartomatous polyposis syndromes and familial adenomatous polyposis (FAP), which affects mainly the large intestine. This review discusses the clinical manifestations and underlying genetics of the most common small intestinal polyposis syndromes: Peutz-Jeghers syndrome (PJS), juvenile polyposis (JP), PTEN hamartoma tumor syndrome (PHTS), and the small intestinal implications of familial adenomatous polyposis (FAP).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s11894-011-0218-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Abdominal and intra-abdominal fibromatoses: Outcomes over time.
Am J Clin Pathol
January 2025
Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US.
Objectives: Abdominal wall and intra-abdominal fibromatoses are locally aggressive, nonmetastasizing neoplasms. Surgery has been the mainstay of local control, but new forms of therapy have been developed that may influence the clinical course and morbidity. We studied the clinical features and outcomes of patients with abdominal and intra-abdominal fibromatoses over time.
View Article and Find Full Text PDFPeripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature.
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 PDFGenetic 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 PDFA Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.
Clin 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 PDFFDG 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 PDFWant 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!