Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan

摘要

A nationwide survey of inherited platelet disorder with suspected predisposition to hematological malignancies clarified the difficulty in accurately diagnosing FPD/AML based on clinical information alone. Our survey also identified additional forms of familial thrombocytopenia and MD. A computer-aided simulation implied that there is a genetic predisposition to immune thrombocytopenia.Inherited thrombocytopenia (IT) contains several forms of familial thrombocytopenia and some of them have propensity to hematological malignancies. The etiological and genetic features of this heterogeneous syndrome have not yet been elucidated.