DICER1-синдром и плевропульмональная бластома: отчет Международного регистра плевропульмональной бластомы

Плевропульмональная бластома (ППБ) наиболее частая опухоль легких у новорожденных и детей раннего возраста, которая ассоциирована с мутациями в гене DICER1. В дополнение к ППБ DICER1-ассоциированные состояния включают большое число других доброкачественных и злокачественных опухолей, в том числе кистозную нефрому и нефробластому, опухоль из клеток Сертоли–Лейдига и гинандробластому яичников, многоузловой зоб и рак щитовидной  железы, и среди прочего ряд опухолей мозга у детей. Ранняя идентификация лиц с  наибольшим риском DICER1-ассоциированных состояний может способствовать образованию  семей, оптимизации наблюдения за конкретными пациентами и определению DICER1- связанных опухолей и состояний в их самой ранней и наиболее куративной форме. Учитывая  редкость этих состояний, ведется и поощряется международное сотрудничество.

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