Клинические и молекулярные особенности нейрофиброматоза 1-го и 2-го типов: обзор литературы

Нейрофиброматоз представляет собой нейрокожный синдром, характеризующийся развитием опухолей центральной или периферической нервной систем, включая головной и спинной мозг, органы, кожу и кости. Существует 3 типа нейрофиброматоза: 1-го (96 % случаев), 2-го (3 % случаев) типов и шванноматоз (менее 1 % случаев). Ген NF1 расположен на хромосоме 17q11.2, которая кодирует белок-супрессор опухоли нейрофибромин, действующий как негативный регулятор сигнальных путей Ras / MAPK (митоген-активируемая протеинкиназа) и PI3K (фосфоинозитид-3-киназа) / mTOR (мишень рапамицина млекопитающих). Ген NF2 идентифицирован на хромосоме 22q12, кодирует мерлин – белок-супрессор опухоли, родственный белкам эзрину, радиксину и моэзину, который модулирует активность сигнальных путей PI3K/AKT, Raf/MEK/ERK и mTOR. Молекулярные представления о различных формах шванноматоза остаются неясными. Инактивирующие мутации в генах-супрессорах опухолей MARCB1 и LZTR1 считаются ответственными за его развитие в большинстве случаев. Недавно были разработаны стратегии лечения НФ, направленные на конкретные генетические или молекулярные события, связанные с онкогенезом. В этом исследовании рассматриваются молекулярные пути и связанные с ними таргетные методы лечения нейрофиброматоза 1-го, 2-го типов и шванноматоза, а также представлен обзор недавних клинических испытаний, в которых участвовали пациенты с данной патологией. 

Цель исследования – представить особенности и патофизиологию нейрофиброматоза, а также современные диагностические и терапевтические стратегии, связанные с этой патологией. 

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