НАСЛЕДСТВЕННЫЙ РАК ЖЕЛУДКА ДИФФУЗНОГО ТИПА: ГЕНЕТИЧЕСКИЕ АСПЕКТЫ И ПРОФИЛАКТИЧЕСКАЯ ТОТАЛЬНАЯ ГАСТРЭКТОМИЯ

Для пациентов с выявленной наследственной мутацией E-cadherin-1 (CDH1) терапией выбора является  профилактическая гастрэктомия для устранения риска развития рака диффузного типа. Представленный  клинический пример описывает редкий случай наследственного рака желудка диффузного типа (HDGC),  ассоциированного с мутацией в гене CDH1, впервые описанного в России. В 2013 году 28-летняя пациентка  была поставлена на учет в клинической онкогенетической лаборатории с семейной историей рака желудка.  Молекулярно-генетический анализ выявил наследственную мутацию в гене CDH1. Риск заболеть раком в  течение жизни у пациентов с выявленной мутацией превышает 80 %. Гистологическое исследование  биопсийного образца, полученного при эндоскопии, обнаружило изолированные мелко-круглые клетки в lamina  propria. В отделе абдоминальной онкологии пациентке было проведено хирургическое вмешательство:  лимфодиссекция в объеме D2 с сохранением селезенки и тотальная гастрэктомия с Roux-en-Y реконструкцией с  формированием тощекишечного резервуара.

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