The Application of Clinical Genetics (Aug 2023)
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
Abstract
Filippos Kyriakidis,1,* Dionysios Kogias,2,* Theodora Maria Venou,1,* Eleni Karlafti,3,4 Daniel Paramythiotis5 1Second Chemotherapy Department, Theagenio Cancer Hospital of Thessaloniki, Thessaloniki, Greece; 2First Department of Internal Medicine, University General Hospital of Alexandroupolis, Alexandroupolis, Greece; 3Emergency Department, AHEPA General University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece; 4First Propaedeutic Department of Internal Medicine, University General Hospital of Thessaloniki AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece; 5First Propaedeutic Surgery Department, AHEPA University General Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece*These authors contributed equally to this workCorrespondence: Filippos Kyriakidis, Tel +30 6984996573, Email [email protected]: Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. Provided that there are a variety of surgical options available to treat colorectal polyps in patients with adenomatous polyposis, the appropriate surgical option for each patient should be considered. The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease. The ideal chemoprevention agent should demonstrate a biologically plausible mechanism of action and provide safety, easy tolerance over an extended period of time and a lasting and clinically meaningful effect. Although many pharmaceutical and non-pharmaceutical products have been tested through the years, there has not yet been a chemoprevention agent that meets these criteria. Thus, it is necessary to develop new FAP agents that target novel pathways, such as the mTOR pathway. The aim of this article is to review the prior literature on FAP in order to concentrate the current and future perspectives of diagnosis and treatment. In conclusion, we will provide an update on the diagnostic and therapeutic options, surgical or pharmaceutical, while focusing on the potential treatment strategies that could further reduce the risk of CRC.Keywords: FAP, colorectal cancer, surveillance, genetic testing, surgery, chemoprevention
