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The variety of hamartomatous polypose syndromes in children and adults in the practice of an endoscopist

https://doi.org/10.31146/2415-7813-endo-66-4-23-30

Abstract

Hamartoma polyps are benign epithelial formations that primarily form in the gastrointestinal tract. Currently, many syndromes that are united by the formation of hamartomas have been described and studied. The term «hamartoma» itself describes neoplasms formed due to a violation of the quantitative ratio of tissue elements and their hyperplasia. The clinical presentation of most gastrointestinal polyps is very similar, while each hamartomatous polyposis syndrome has its own clinical features and unique presentations. This group of diseases is diverse; the most important aspect of this problem is that most of the diseases described in this literature review are associated with cancer. In the vast majority of cases, endoscopists are the first to see hamartomatous polyps in the gastrointestinal tract. Modern technologies make it possible to perform minimally invasive removal not only in the upper sections and large intestine, but also in the small intestine. However, the endoscopic picture of different syndromes is practically the same.Thus, timely detection, differential diagnosis, correct diagnosis and selection of optimal tactics for dynamic observation and adequate treatment is an important task that requires a multidisciplinary approach. This paper presents the characteristics of rare syndromes of hamartomatous polyposis, namely juvenile polyposis syndrome, Peutz-Jeghers, hereditary mixed polyposis, Cowden, Bannayan-Riley-Ruvalcaba, as well as acquired juvenile polyposis syndrome - Cronchite-Canada. A brief historical background is presented, clinical manifestations, etiology, pathogenesis, microscopic differences and features are described.

About the Authors

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


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


V. S. Luzganova
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation


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


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


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


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Review

For citations:


Lokhmatov M.M., Korolev G.A., Luzganova V.S., Tupylenko A.V., Oldakovskiy V.I., Budkina T.N. The variety of hamartomatous polypose syndromes in children and adults in the practice of an endoscopist. Filin’s Clinical endoscopy. 2024;66(4):23-30. (In Russ.) https://doi.org/10.31146/2415-7813-endo-66-4-23-30

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