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Familial adenomatous polyposis (FAP) is a rare inherited disorder characterized by numerous adenomatous polyps throughout the colon and rectum, leading to a significantly increased risk of colorectal cancer. We present the case of a 19-year-old male patient with a known family history of FAP who presented with recurrent lower abdominal pain, altered bowel habits, and rectal bleeding. Initial examination identified rectal polyps, and subsequent colonoscopy revealed multiple adenomatous polyps. Histopathological analysis initially raised the possibility of oxyntic adenomas due to the glandular tissue's anastomosing and cribriform pattern. However, further detailed evaluation, which identified a significant population of both chief and parietal cells within the glandular pits, supported the diagnosis of mixed hyperplastic/fundic gland polyps with focal low-grade dysplasia. This case highlights the diagnostic complexities in distinguishing between oxyntic adenomas and mixed hyperplastic/fundic gland polyps in FAP patients, emphasizing the importance of accurate diagnosis in guiding management, including surveillance, surgical intervention, genetic counseling, and lifestyle modifications.
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http://dx.doi.org/10.7759/cureus.73052 | DOI Listing |
Khirurgiia (Mosk)
September 2025
Vishnevsky National Medical Research Center of Surgery, Moscow, Russia.
Objective: To demonstrate the effectiveness and safety of intraluminal endoscopic treatment of patients with adenomas of the major duodenal papilla and familial adenomatous polyposis.
Material And Methods: Over the past 4 years, 13 patients with adenomas of the major duodenal papilla and familial adenomatous polyposis underwent surgery in our hospital. Of these, 7 patients had exclusively extrapapillary adenomas without signs of spread to the ducts.
Fam Cancer
September 2025
Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
This study compares three hereditary colorectal cancer (CRC) registries-the Iranian Hereditary Colorectal Cancer Registry (IHCCR), the Singapore Polyposis Registry (SPR), and the University of Cape Town Familial CRC Registry-to illuminate diverse approaches to identification, management, and research across different healthcare systems. Each registry, while emphasizing patient diversity, employed unique strategies reflecting available resources and epidemiological contexts. The IHCCR, leveraging WES, revealed considerable genetic heterogeneity, including novel mutations.
View Article and Find Full Text PDFFam Cancer
September 2025
Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, 9500 Euclid Avenue / A30, Cleveland, OH, 44195, USA.
Familial adenomatous polyposis (FAP) is an inherited condition that predisposes individuals to colorectal cancer without preventive treatment. Surgical management typically involves restorative proctocolectomy with an ileal pouch anal anastomosis or colectomy with ileorectal anastomosis. Complete removal of the large intestine and rectum with a permanent stoma may also be required in selected cases.
View Article and Find Full Text PDFFam Cancer
September 2025
Ambry Genetics, 1 Enterprise, Aliso Viejo, CA, 92656, USA.
Pathogenic variants in the APC gene are classically associated with autosomal dominant familial adenomatous polyposis (FAP), characterized by tens-to-thousands of colonic adenomatous polyps and a high-penetrance predisposition to colorectal cancer. More recently, specific PVs in the YY1 binding motif of APC promoter 1B have been associated with autosomal dominant gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), characterized by tens-to-thousands of fundic gland polyps and a predisposition to gastric cancer but which are only rarely associated with features consistent with FAP. Although management guidelines currently treat FAP and GAPPS as mutually exclusive conditions, the extent of phenotypic overlap is not well-characterized.
View Article and Find Full Text PDFWorld J Clin Oncol
August 2025
Department of Pathology, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene. It is characterized by the early development of hundreds of adenomas in the colon during the second decade of life. If prophylactic colectomy is not performed, most patients eventually develop colorectal cancer (CRC).
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