gnckКолопроктологияKoloproktologia2073-75562686-7303Russian Association of Coloproctology10.33878/2073-7556-2021-20-2-85-96gnck-1628Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWСиндром Пейтца-Егерса: что стало известно за 125 лет изучения? (обзор литературы)Peutz-Jeghers syndrome: what has been known for 125 years of research? (review)https://orcid.org/0000-0001-9934-3596СавельеваТ. А.SavelyevaTatiana A.

ул. Саляма Адиля, д. 2, г. Москва, 123423, Россия

Tatiana A. Savelyeva

Salyama Adilya str., 2, Moscow, 123423, Russia

saveleva_tatijana@mail.ruhttps://orcid.org/0000-0001-7040-6979ПикуновД. Ю.PikunovD. Yu.

ул. Саляма Адиля, д. 2, г. Москва, 123423, Россия

Dmitry Yu. Pikunov

Salyama Adilya str., 2, Moscow, 123423, Russia

https://orcid.org/0000-0002-8489-1853КузьминовА. М.KuzminovA. M.

ул. Саляма Адиля, д. 2, г. Москва, 123423, Россия

Alexandr M. Kuzminov

Salyama Adilya str., 2, Moscow, 123423, Russia

https://orcid.org/0000-0001-8571-7462ЦукановА. С.TsukanovA. S.

ул. Саляма Адиля, д. 2, г. Москва, 123423, Россия

Alexey S. Tsukanov

Salyama Adilya str., 2, Moscow, 123423, Russia

ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава РоссииРоссияRyzhikh National Medical Research Center of ColoproctologyRussian Federation2021210620212028596Copyright © Савельева Т.А., Пикунов Д.Ю., Кузьминов А.М., Цуканов А.С., 20212021Савельева Т.А., Пикунов Д.Ю., Кузьминов А.М., Цуканов А.С.Savelyeva T.A., Pikunov D.Y., Kuzminov A.M., Tsukanov A.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.ruproctology.com/jour/article/view/1628

Синдром Пейтца-Егерса (СПЕ) является крайне редким аутосомно-доминантным наследственным заболеванием, которое клинически характеризуется ростом гамартомных полипов в желудочно-кишечном тракте, слизисто-кожной пигментацией и повышенным риском возникновения злокачественных новообразований различной локализации. В большинстве случаев развитие СПЕ связано с наличием мутации в гене STK11, однако не у всех пациентов имеется данная мутация. В настоящем обзоре литературы представ- лены исторические аспекты появления данных о СПЕ, рассмотрены клинические проявления заболевания, актуальные методы диагностики, а также современные знания о генетических причинах развития СПЕ, риске возникновения злокачественных новообразований у пациентов с СПЕ, существующие рекомендации по скринингу и лечению пациентов с СПЕ. Однако наличие ряда нерешенных до настоящего времени вопросов в генетике, мониторинге и лечении свидетельствуют о необходимости дальнейших исследований.

Peutz-Jeghers syndrome (PJS) is an extremely rare autosomal dominant hereditary disease characterized by the growth of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmented macules and an increased risk of malignant neoplasms of various localizations. In most cases the development of PJS is associated with the presence of a mutation in the STK11 gene, but not all patients have this mutation. This review presents the historical aspects of the first data on PJS, considers the clinical manifestations of the disease, current diagnostic methods, as well as recent knowledge about the genetic causes, about the risk of malignant neoplasms in patients with PJS, existing guidelines for screening and treatment of patients with PJS. However, the presence of a number of unresolved issues in genetics, monitoring and treatment indicates the need for further research.

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The authors declare that there are no conflicts of interest present.