Таргетная терапия неоперабельных плексиформных нейрофибром у детей с нейрофиброматозом 1-го типа

Нейрофиброматоз 1 типа является мультисистемным генетическим заболеванием, характеризующимся развитием доброкачественных и злокачественных опухолей, среди которых особое место занимают плексиформные нейрофибромы. Эти опухоли, возникающие у 10–30% детей с нейрофиброматозом 1 типа, существенно ухудшают качество жизни, вызывая боль, обезображивание и функциональные нарушения. Традиционное лечение плексиформных нейрофибром ограничивалось хирургическим вмешательством, однако возможность радикальной резекции опухолей существует лишь у небольшого числа пациентов. Применение селективного ингибитора MEK — селуметиниба открыло новый этап терапии неоперабельных плексиформных нейрофибром. Клинические исследования демонстрируют значительное уменьшение объема опухоли (у 68 % пациентов наблюдался частичный ответ с длительным улучшением) и улучшение клинических симптомов, таких как боль и двигательные нарушения. Несмотря на преимущественно легкую или умеренную токсичность лекарственного препарата, наиболее распространенные нежелательные явления включали кожные реакции, желудочно-кишечные расстройства и повышение уровня креатинфосфокиназы, требующие тщательного мониторинга и своевременной коррекции. Введение селуметиниба в клиническую практику значительно изменило подход к ведению пациентов с нейрофиброматозом 1 типа, позволяя эффективно контролировать рост плексиформных нейрофибром, улучшать качество жизни пациентов и минимизировать необходимость повторных травматичных хирургических вмешательств. Тем не менее, требуется дальнейшее изучение оптимальных доз и длительности терапии.

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