Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes

摘要: To better understand the underlying molecular basis of polycythemia vera (PV), we performed whole-exome sequencing and DNA copy-number analysis 31 JAK2V617F-positive patients further investigated evolution somatic mutations using longitudinal samples. In addition to JAK2V617F 9pUPD, identified frequent recurrent mutation in ASXL1, TET2, DNMT3A, SF3B1 NF1. Forty two percent had a at least one epigenetic modifier gene. 4 patients, variant allele abundance suggested was preceded by other including DNMT3A SF3B1. Strikingly, 7 apparent germline variants were detected COSMIC codons or more PV-related genes which also discovered across cohort, suggesting that some pre-JAK2V617F contribute substantial T-lymphocyte progeny. This study contributes novel understanding complexity PV pathogenesis.