An evolving understanding of low VWF and type 1 VWD

with erythroid differentiation.Interestingly, there was also overexpression of Mef2c (myocyte enhancer factor 2C), a transcription factor involved in megakaryocyte differentiation.The net result of these changes was a phenotype that is remarkably similar to the human PMF.The authors then identified SETBP1 mutations in 19.4% of the patients with TN-PMF and identifiable somatic mutations and, using single-cell targeted DNA sequencing, and confirmed SETBP1 to be an early event in the primary patient samples.