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Journal of Environmental Pathology, Toxicology and Oncology
Factor de Impacto: 1.625 Factor de Impacto de 5 años: 1.63 SJR: 0.402 SNIP: 0.613 CiteScore™: 2.3

ISSN Imprimir: 0731-8898
ISSN En Línea: 2162-6537

Journal of Environmental Pathology, Toxicology and Oncology

DOI: 10.1615/JEnvironPatholToxicolOncol.v28.i1.50
pages 47-52

Revolutionary Advances in the Diagnosis and Treatment of Familial Adenomatous Polyposis

Richard Edlich
Legacy Verified Level I Shock Trauma Center Pediatrics and Adults, Legacy Emanual Hospital; and Plastic Surgery, Biomedical Engineering and Emergency Medicine, University of Virginia Health System, USA
Catherine L. Cross
Legacy Emanuel Hospital, Portland, OR, USA
Courtney A. Wack
Legacy Emanuel Hospital, Portland, OR, USA
Margot E. Chase
Legacy Emanuel Hospital, Portland, OR, USA
K. Dean Gubler
Surgical Critical Care, Legacy Verified Level I Shock Trauma Center for Pediatrics and Adults, Legacy Emanuel Hospital, Portland, OR, USA
William B. Long III
Trauma Specialists LLP, Legacy Verified Level I Shock Trauma Center for Pediatrics and Adults, Legacy Emmanuel Hospital Portland, OR, USA

SINOPSIS

During the last 25 years, there have been revolutionary advances in the treatment of Familial Adenomatous Polyposis (FAP). The purpose of this article is to describe the pathophysiology, genetic testing, surveillance, surgical interventions, and psychosocial issues. The genetic defect in FAP is germline mutation in the adenomatous polyposis coli (APC) gene. Syndromes once thought to be distinct from FAP are now recognized to be part of the phenotypic spectrum of FAP. Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adenomatous Polyposis Coli (AAPC). FAP is a germline mutation in the APC gene with onset of florid polyposis in childhood and development of colorectal cancer by age 30. Colectomy is advised because of the high risk of developing colorectal cancer. AAPC is a variant of this condition with later age of onset and milder clinical pheno-type. However, colectomy is advised once polyposis develops and polyps cannot be managed endoscopically. Despite the unique advances in genetic testing, psychosocial management of these syndromes remains to be a challenging problem.


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