Some data indicate serrated polyposis syndrome (SPS) is underdiagnosed. We determined the frequency of SPS diagnosis by community endoscopists prior to referral to a tertiary center. We performed a retrospective analysis of a prospectively collected database of SPS patients at a tertiary academic hospital. There were 212 patients who were referred to our center for resection of one or more lesions detected at a prior colonoscopy and who had records available that allowed determination of whether SPS was diagnosed before referral. Only 25 of 212 patients (11.8%) had a diagnosis or suspicion of a polyposis syndrome prior to referral, and only 12 patients (5.7%) had a specific SPS diagnosis made prior to referral. Among 187 patients diagnosed at our center, 39 had sufficient serrated lesions removed and documented in outside records to meet SPS criteria prior to referral, but the diagnosis was not made by the referring physician despite adequate numbers of lesions resected. The remaining cases required lesions removed at our center to meet SPS diagnostic criteria. Limitations were a single center, single expert endoscopist. SPS is the most common colorectal polyposis syndrome, but it remains underdiagnosed by community endoscopists. Underdiagnosis may contribute to post-colonoscopy colorectal cancer in patients with SPS.
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http://dx.doi.org/10.1055/a-2157-4125 | 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.
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