Случай редкой наследственной тромбоцитопении с предрасположенностью к развитию острого миелоидного лейкоза у детей-близнецов

Abstract

Family thrombocytopenia/thrombocytopathy with a predisposition to the development of acute myeloid leukemia (AML) is a rare disease associated with a mutation in the RUNX1 gene. To date, there are data on this disease in no more than 70 families. We present a description of the clinical observation of this pathology in two twin children, and also offer an analysis of available literature on the pathogenetic aspects and prevalence of this rare disease. Patient s parents agreed to use personal dats and photos in research and publications.