Familial adenomatous polyposis (FAP) is a rare syndrome caused by adenomatous polyposis coli () gene mutation resulting in the development of hundreds of adenomatous colorectal polyps. The disease process usually manifests fully by the second decade of life. Total colectomy or restorative proctocolectomy is often required to prevent the development of colorectal adenocarcinoma. Routine surveillance following surgery is critical for the early detection of polyps or malignancy. We present a rare case of a 31-year-old male with a history of FAP status post total proctocolectomy with ileal pouch-anal anastomosis (IPAA) who presented with acute exacerbation of lower back pain and new-onset lower extremity paresthesia. Imaging demonstrated an aggressive T12 vertebral body lesion. Pathology following laminectomy demonstrated metastatic adenocarcinoma. Subsequent pouchoscopy revealed a distal 1.5-cm pedunculated lesion arising from remnant rectal tissue with pathology confirming moderately differentiated rectal adenocarcinoma. This patient underwent a prophylactic proctocolectomy 20 years prior to this admission but was lost to follow-up prior to any endoscopic evaluations. Despite postoperative surveillance guidelines and patient counseling, follow-up and recommended endoscopic evaluation are often inadequate. This case examines potential socioeconomic factors influencing the completion of surveillance endoscopy and also represents an opportunity to incorporate education and provide resources to patients with FAP to improve surveillance examinations and mitigate the development of preventable malignancies.
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http://dx.doi.org/10.7759/cureus.28591 | DOI Listing |
Tech Coloproctol
January 2025
Colorectal Surgery Division, Department of Surgery, Chulalongkorn University, Bangkok, Thailand.
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 PDFJ Gastrointest Surg
January 2025
Cleveland Clinic, Cleveland, Ohio Department of Colorectal Surgery. Electronic address:
Background: This study aims to report the experience over 40 years and outcomes of 5070 patients who underwent a pelvic pouch procedure.
Methods: A retrospective analysis of a prospectively maintained IPAA database- (1983 - 2022) was performed. Patients were stratified based on the diagnosis: ulcerative colitis (UC), indeterminate colitis (IC), familial adenomatous polyposis (FAP), inflammatory bowel disease-dysplasia, Crohn's colitis (CD), and others.
Iran J Med Sci
December 2024
Department of Biology, Faculty of Science and Technology, Universitas Airlangga, Surabaya, Indonesia.
Background: In approximately 80% of colorectal cancer cases, mutations in the adenomatous polyposis coli () gene disrupt the Wingless-related integration site (Wnt)/β-catenin signaling pathway, a crucial factor in carcinogenesis. This disruption may result in consequences such as aberrant spindle segregation and mitotic catastrophe. This study aimed to analyze the effectiveness of the ethanolic extract of red okra () pods (EEROP) in inducing apoptosis in colorectal cancer cells (SW480) by inhibiting the Wnt/β-catenin signaling pathway.
View Article and Find Full Text PDFAm 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.
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