Emrah Akın, Fatih Altıntoprak, Furkan Küçük

Herediter Adenomatöz Polipozis Sendromlarında Profilaktik Cerrahi: Ne Zaman ve Nasıl? Güncel Yaklaşımlar ve Literatür Derlemesi

Herediter adenomatöz polipozis sendromları; Familyal Adenomatöz Polipozis (FAP), Atenüe Familyal Adenomatöz Polipozis (AFAP), MUTHY ilişkili AdenomatözPolipozis (MAP) ve Polimeraz Proofreading Sendrom (PPS) olarak tanımlanan farklı hastalıkları bünyesinde barındırmaktadır. Hastalar fenotip özellikleri, genotip ilişkiliprezantasyon, yaş, cerrahinin zamanlaması, kapsamı ve tekniği gibi çeşitli faktörlerin bir arada değerlendirildiği profilaktik cerrahi için adaydır. Günümüzde klinik,moleküler ve teknik ilerlemeler daha az invazif ve riski uyarlanmış cerrahi ile birlikte bireyselleştirilmiş tedavi seçeneklerini sunmaktadır. Malignite gelişmeden önce hedeforganın ortadan kaldırılması olarak tanımlanan profilaktik cerrahi seçeneği bu sendromlarda gündeme gelmektedir. Bu yazıda; tanımlanan sendromlardaki genetik altyapıve klinik prezantasyon farkları gözden geçirilip, profilaktik cerrahinin zamanlaması ve seçenekleri güncel literatür verileri ışığında derlenmiştir.

Prophylactic Surgery in Hereditary Adenomatosis Polyposis Syndromes: When and How? - Update and Literature Review

Hereditary adenomatous polyposis syndromes; It includes different diseases defined as Family Adenomatous Polyposis (FAP), Attenuated Family Adenomatous Polyposis (AFAP), MUTHY-associated Adenomatous Polyposis (MAP), and Polymerase Proofreading Syndrome (PPS). Patients are candidates for prophylactic surgery, in which various factors such as phenotype characteristics, genotype related presentations, age, timing, scope, and technique of surgery are evaluated together. Currently, clinical, molecular, and technical advances offer individualized treatment options with minimally invasive and risk-adapted surgery. Prophylactic surgery is the resection of the target organ before development of malignancy occurs in these syndromes. In this text; The genetic background and clinical presentation differences in defined syndromes were reviewed and the timing and options of prophylactic surgery were compiled with current literature data.

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