ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v20i6.2665ppharm-2377Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCASE REPORTНаследственные синдромы в детской онкогематологииHereditary syndromes in pediatric hematooncologyhttps://orcid.org/0000-0002-0442-5810КозловаВ. М.KozlovaValentina M.

Москва

Valentina M. Kozlova, MD

Moscow

https://orcid.org/0000-0002-4088-8118ЗеленоваЕ. Е.ZelenovaEkaterina E.

Зеленова Екатерина Евгеньевна, врач-генетик 

115478, Москва, Каширское шоссе, 23

Ekaterina E. Zelenova, MD

23 Kashirskoe highway, Moscow, 115478

zelenovayeye@gmail.comhttps://orcid.org/0000-0002-1469-2365ВалиевТ. Т.ValievTimur T.

Валиев Тимур Теймуразович, д.м.н.

Москва

Timur T. Valiev, MD, PhD

Moscow

timurvaliev@mail.ruhttps://orcid.org/0000-0002-9705-1001СеменоваВ. В.SemenovaVera V.

Семенова Вера Владимировна

Москва

Vera V. Semenova, MD

Moscow

https://orcid.org/0000-0002-2642-4202НаседкинаТ. В.NasedkinaTatiana N.

Наседкина Татьяна Васильевна, д.б.н.

Москва

Tatiana V. Nasedkina, MD, PhD

Moscow

https://orcid.org/0000-0002-9502-072XМихайловаС. Н.MikhailovaSvetlana N.

Михайлова Светлана Николаевна, к.м.н.

Москва

Svetlana N. Mikhailova, MD, PhD

Moscow

НМИЦ онкологии им. Н.Н. БлохинаРоссияN.N. Blokhin National Medical Research Centre of OncologyRussian FederationНМИЦ онкологии им. Н.Н. Блохина; Институт молекулярной биологии им. В.А. ЭнгельгардтаРоссияN.N. Blokhin National Medical Research Centre of Oncology; V.A. Engelhardt Institute of Molecular BiologyRussian FederationНМИЦ онкологии им. Н.Н. Блохина; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияN.N. Blokhin National Medical Research Centre of Oncology; I.M. Sechenov Moscow Medical AcademyRussian Federation202303012024206557–573Copyright © Козлова В.М., Зеленова Е.Е., Валиев Т.Т., Семенова В.В., Наседкина Т.В., Михайлова С.Н., 20232023Козлова В.М., Зеленова Е.Е., Валиев Т.Т., Семенова В.В., Наседкина Т.В., Михайлова С.Н.Kozlova V.M., Zelenova E.E., Valiev T.T., Semenova V.V., Nasedkina T.N., Mikhailova S.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/2377

Онкогематологические заболевания занимают первое место в структуре злокачественных новообразований детского возраста. Соматические мутации в клетках опухолевых клонов хорошо изучены, включены в современные классификации, используются для стратификации больных на прогностические группы риска и выбора программы терапии. В то же время описано более 50 наследственных синдромов, ассоциированных с развитием гемобластозов. Часть из них (синдром Дауна, синдром Клайнфельтера, микроделеционные синдромы и др.) обусловлены хромосомной патологией, для других описаны альтерации одного или нескольких генов с различным типом наследования и возрастом манифестации онкогематологических заболеваний. Гены предрасположенности к онкогематологическим заболеваниям участвуют в процессах репарации ДНК, регуляции клеточного цикла, иммунного ответа и работы костного мозга. В данной статье приведены актуальные данные о генетических синдромах, ассоциированных с развитием гемобластозов с описанием собственных клинических наблюдений

Hematooncological diseases head the list in the structure of malignant neoplasms of childhood. Somatic mutations in tumor clone cells have been well studied, included in modern classifications, and are used to stratify patients into prognostic risk groups and select a therapy program. At the same time, more than 50 hereditary syndromes associated with the development of hemoblastoses have been described. Some of them (Down’s syndrome, Klinefelter’s syndrome, microdeletion syndromes et al.) are caused by chromosomal pathology, while others describe alterations of one or more genes with different types of inheritance and age of manifestation of hematooncological diseases. Genes of predisposition to hematooncological diseases are involved in the processes of DNA repair, regulation of the cell cycle, immune response and bone marrow function. This article presents current data on genetic syndromes associated with the development of hemoblastosis with a description of their own clinical observations.

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