Опухолевые заболевания системы крови при синдроме конституционального дефицита репарации ошибочно спаренных нуклеотидов

Введение. Синдром конституционального дефицита (Constitutional mismatch repair defi ciency syndrome, CMMRD) представляет собой редкий аутосомно-рецессивный синдром предрасположенности к развитию злокачественных новообразований.

Цель: представить клиническое наблюдение больного с рецидивом Т-лимфобластной лимфомы, у которого был диагностирован наследственный синдром предрасположенности к опухолям (синдром конституционального дефицита репарации ошибочно спаренных нуклеотидов).

Основные сведения. Причиной возникновения СMMRD считают наличие биаллельных герминальных гомо- или компаунд-гетерозиготных вариантов в генах системы MMR ( MLH1, MSH2, MSH6, PMS2 ), инактивация этих генов приводит к увеличению мутационной нагрузки и, как следствие, к злокачественной трансформации клеток. Утрата функции системы MMR обуславливает развитие широкого спектра злокачественных новообразований в детском и подростковом возрасте, при этом зачастую дебют первой неоплазии приходится на опухолевые заболевания системы крови. Отдаленный прогноз для больных с CMMRD остается крайне неблагоприятным в связи с высоким риском развития метахронных злокачественных новообразований других локализаций, что диктует необходимость систематического мониторинга данной группы больных.

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