Генетические и обменные особенности семейных изолированных аденом гипофиза

Семейные изолированные аденомы гипофиза (FIPA, familial isolated pituitary adenoma) – относительно новый термин для обозначения заболевания, которое характеризуется аутосомно-доминантным наследованием с неполной пенетрантностью в результате развития опухолей гипофиза без отличительных признаков других эндокринных заболеваний или синдромов, таких, как, например, синдром множественных эндокринных неоплазий 1 типа (МЭН-1 синдром) или Карни-комплекс [1]. FIPA-cемьи насчитывают около 2% среди всех случаев возникновения аденом гипофиза. Среди этих FIPA-cемей около 15–20% имеют мутации в гене, кодирующем белок арилуглеводородного рецептора. Это супрессорный ген, расположенный на длинном плече 11 хромосомы [2, 3]. Этиологический ген для остального большего процента FIPA-cемей до сих пор остается неизвестным. Зародышевые мутации в AIP-гене были также обнаружены у пациентов с ранним развитием аденом гипофиза, в основном секретирующих гормон роста, или соматотропный гормон (СТГ), гораздо реже – пролактин (ПРЛ) и адренокортикотропный гормон (АКТГ) без наличия явной семейной истории. Такие случаи называются «простыми». Соматические мутации AIP-гена в гипофизарных или опухолях другой локализации до настоящего времени не описаны [1].

акромегалия, опухоли гипофиза

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