Spotlight on FLI1, RUNX1, and platelet dysfunction

摘要

In this issue of Blood, Stockley et al describe mutations in FLI1 and RUNX1, identified by next-generation sequencing (NGS) studies, in 6 of 13 patients with excessive bleeding and impaired platelet dense granule secretion, and highlight transcription factor (TF) mutations as an important mechanism for inherited platelet dysfunction.