Familial adenomatous polyposis may exhibit extracolonic tumors which include thyroid carcinoma. It has been recently suggested that thyroid carcinomas associated with familial adenomatous polyposis show distinct histologic features different from sporadic follicular or papillary thyroid carcinomas. We report a case of thyroid carcinoma in a young girl affected by familial adenomatous polyposis, whose thyroid tumor exhibited some of these features. This finding confirms the peculiar histologic phenotype of the thyroid carcinomas associated with familial adenomatous polyposis. Alterations of the APC gene responsible for familial adenomatous polyposis may play a role in the development of these thyroid cancers.
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World J Gastroenterol
January 2025
Department of Gastroenterology and Hepatology, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.
Gastric polyps are commonly detected during upper gastrointestinal endoscopy. They are most often benign and rarely become malignant. Nevertheless, adequate knowledge, diagnostic modalities, and management strategies should be the endoscopist's readily available "weapons" to defeat the potentially malignant "enemies".
View Article and Find Full Text PDFClin 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 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.
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