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Family adenomatous polyposis in children and adults

https://doi.org/10.31146/2415-7813-endo-67-3-86-92

Abstract

Relevance. Familial adenomatous polyposis syndrome is a severe6 cancer-associated disease that usually manifests itself in childhood. If left untreated, it leads to the development of colorectal cancer in 100%. The purpose of this study is to provide up-to-date information on the etiology, pathogenesis, diagnosis, and treatment of patients with familial adenomatous polyposis. The main part. Familial adenomatous polyposis is a genetically determined disease that develops as a result of a mutation in the APC suppressor gene. The vast majority of adenomatous polyps are formed in the colon. An adenoma is a neoplastic growth that can become an adenocarcinoma. However, due to the fact that there can be several thousand polyps in the intestinal lumen in FAP, the risk of malignancy is close to 100%. Conclusion. The only radical treatment for SAP is total colectomy. However, adenomas can also form in the small intestine, requiring ongoing monitoring and endoscopic treatment, as duodenal cancer is the second leading cause of death in patients with SAP.

About the Authors

M. M. Lokhmatov
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation; First Moscow State Medical University named after I.M. Sechenov of the Ministry of Health of the Russian Federation (Sechenov University)
Russian Federation


G. A. Korolev
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation


E. I. Khvatova
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation


A. V. Tupylenko
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation


V. I. Oldakovskiy
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation


T. N. Budkina
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation


E. Yu. Dyakonova
National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation


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Review

For citations:


Lokhmatov M.M., Korolev G.A., Khvatova E.I., Tupylenko A.V., Oldakovskiy V.I., Budkina T.N., Dyakonova E.Yu. Family adenomatous polyposis in children and adults. Filin’s Clinical endoscopy. 2025;67(3):86-92. (In Russ.) https://doi.org/10.31146/2415-7813-endo-67-3-86-92

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