Атипические опухоли в структуре множественного поражения околощитовидных желез у пациента с МЭН-1 синдромом

Синдром множественной эндокринной неоплазии 1 типа (МЭН-1) — наследственная патология, ассоциированная с  мутациями в гене MEN1 и характеризующаяся «классической триадой»: поражением околощитовидных желез (ОЩЖ), островковых клеток поджелудочной железы и передней доли гипофиза. Пенетрантность первичного опухолевого поражения ОЩЖ в рамках МЭН-1 с возрастом достигает 90–100%. Первичный гиперпаратиреоз (ПГПТ) в рамках МЭН-1 синдрома сопровождается полигландулярным поражением, причем опухоли не всегда развиваются синхронно, что обуславливает высокую частоту послеоперационных рецидивов заболевания. При МЭН-1-ассоциированном ПГПТ наиболее часто определяются гиперплазии, реже встречаются множественные аденомы. Рост гиперплазированных клеток при этом может быть диффузным, узловым или диффузно-узловым, что затрудняет дифференциальную диагностику между аденомой и диффузно-узловой гиперплазией с наличием одного доминантного узла. Карциномы и атипические опухоли при МЭН-1 встречаются казуистически редко. Мы представляем описание уникального случая молодого пациента с герминальной мутацией в гене MEN1 (c.684dup), клинически «агрессивным» течением ПГПТ вследствие атипических опухолей ОЩЖ.

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