Атипические тератоидно-рабдоидные опухоли: молекулярно-генетические особенности, перспективы лечения. Обзор литературы

Атипические тератоидно-рабдоидные опухоли (АТРО) – злокачественные эмбриональные опухоли центральной нервной системы (ЦНС), встречающиеся преимущественно у детей раннего возраста. В 20–30 % случаев имеют место первично метастатические опухоли. ATРО является моногенным заболеванием, характеризующимся биаллельной мутацией гена SMARCB1, реже SMARCА4. Выживаемость пациентов с АТРО остается низкой. Применение мультимодальных методов лечения с включением хирургического этапа, стандартных режимов химиотерапии с интратекальным введением цитостатиков, высокодозной химиотерапии с поддержкой аутологичными стволовыми клетками и лучевой терапии имеет значительный потенциал для улучшения результатов. Недавние эпигенетические и транскрипционные исследования, проведенные двумя независимыми исследовательскими группами, позволяют выделить 3 подгруппы ATРО, имеющие различные молекулярные характеристики с соответствующей терапевтической чувствительностью. Дальнейшее изучение молекулярных вариантов, включение биологически направленных препаратов может являться многообещающей стратегией для оптимизации лечения в будущих исследованиях.

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