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Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.
Hered Cancer Clin Pract
January 2025
Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.
Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.
View Article and Find Full Text PDFEosinophilic Granulomatosis With Polyangiitis: A Real-World Study of Biologics and Sinus Surgery Use for Managing Nasal Polyposis.
Int Forum Allergy Rhinol
January 2025
Department of Otorhinolaryngology, Mayo Clinic in Arizona, Scottsdale, Arizona, USA.
Background/aim: Eosinophilic granulomatosis with polyangiitis (EGPA) is a multisystemic disease associated with nasal polyposis. Multiple biologics are used for managing EGPA, including some approved for nasal polyps (NP). This study investigated real-world biologic prescription patterns for EGPA and their impact on NP and endoscopic sinus surgery (ESS) use.
View Article and Find Full Text PDFRare Case of Mantle Cell Lymphoma With Multiple Rectal Lesions.
United European Gastroenterol J
January 2025
Department of Gastroenterology and Digestive Endoscopy, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
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 PDFTwo independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
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