Наследственные синдромы в детской онкогематологии

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

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