Clinical impacts of the mutational spectrum in Japanese patients with primary myelofibrosis

Patients with primary myelofibrosis (PMF) have a poorer prognosis than those other subtypes of myeloproliferative neoplasms (MPNs). To investigate the relationship between gene mutations and Japanese PMF patients, we analyzed in 72 regions located 14 MPN-relevant genes (CSF3R, MPL, JAK2, CALR, DNMT3A, TET2, EZH2, ASXL1, IDH1/2, SRSF2, SF3B1, U2AF1, TP53) utilizing target resequencing platform. In our cohort, ASXL1 were more frequently detected both overt prefibrotic patients mutations. The frequency was slightly higher among (44.6% vs 25.0%, FDR = 0.472). Decision tree classification algorithms revealed that SRSF2 associated poor for PMF. Overall survival significantly shorter harboring or without these (p 0.03). These results suggest that, as reported Western countries, MIPSS70 is applicable to may be utilized surrogate markers prognosis.