problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13383problendo-13383Research ArticleДетская эндокринологияPediatric EndocrinologyСиндром DICER1: клиническая гетерогенность, эндокринные проявления и особенности диагностикиDICER1 syndrome: clinical variety endocrine manifestations and features of diagnosticshttps://orcid.org/0000-0002-6505-7548НовокрещенныхЕ. Э.NovokreshennihE. E.

Новокрещенных Евгения Эдуардовна, сотрудник отделения наследственных заболеваний и эндокринопатий раннего возраста, врач-детский эндокринолог 

117036, Москва, ул. Дм. Ульянова, д. 11

Evgeniya E. Novokreshennih

11 Dm. Ulyanova street, 117036 Moscow

novokreshennih.e@endocrincentr.ruhttps://orcid.org/0000-0001-7736-5372КолодкинаА. А.KolodkinaA. A.

Колодкина Анна Александровна, к.м.н.

Москва

Anna A. Kolodkina, MD, PhD

Moscow

anna_kolodkina@mail.ruhttps://orcid.org/0000-0001-9621-5732БезлепкинаО. Б.BezlepkinaO. B.

Безлепкина Ольга Борисовна, д.м.н., профессор

Москва

Olga B. Bezlepkina, MD, PhD, Professor

Moscow

olga.bezlepkina@endocrincentr.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation2024161020237027885Copyright © Новокрещенных Е.Э., Колодкина А.А., Безлепкина О.Б., 20242024Новокрещенных Е.Э., Колодкина А.А., Безлепкина О.Б.Novokreshennih E.E., Kolodkina A.A., Bezlepkina O.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13383

Синдром DICER1 является редким наследственным заболеванием, характеризующееся прогрессирующим развитием доброкачественных и злокачественных образований преимущественно в детском и молодом возрасте. В основе данного синдрома лежит нарушение функции эндорибонуклеазы DICER, играющей значительную роль в процессинге микроРНК с последующей регуляцией контроля экспрессии онкогенов и генов-супрессоров опухолевого роста. Клиническая картина дайсеропатий весьма разнообразна и может включать как эндокринные проявления – многоузловой зоб, высокодифференцированный рак щитовидной железы, стромальные опухоли яичников, бластомы гипофиза, так и неэндокринные образования – плевропульмональную бластому, кистозную нефрому, пинеобластому, рабдомиосаркому и другие образования. Возникновение соматических мутаций гена DICER1 является результирующим этапом в патогенезе дайсеропатий, определяющим дальнейшее направление онкогенеза. В настоящее время синдром DICER1 диагностируется редко, что приводит к позднему выявлению составляющих заболевания у пациента, поздней диагностике новообразований, отсутствию семейного консультирования. Диагностика на ранних этапах заболевания, разработка программ скрининга при ведении данных пациентов позволяет минимизировать риски развития более злокачественных, агрессивных форм заболевания.

DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations – multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non–endocrine formations — pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.

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