[Clinical impact of gene mutations on myeloproliferative neoplasms in Japan]

Myeloproliferative neoplasms (MPN) are caused by somatic mutations in hematopoietic stem/progenitor cells and result in excessive increase in the blood cell mass in the peripheral blood and/or fibrosis in the bone marrow. JAK2, CALR, and MPL mutations are well-known driver mutations of MPN and are widely applied as diagnostic markers of MPN. Moreover, several studies using massive parallel sequencing technologies have shown that mutations in ASXL1, EZH2, SRSF2, and IDH1/2 affect the prognosis of overt primary myelofibrosis and have further clarified that the mutation order may influence the MPN phenotype. More recently, our group identified that CREB3L1 mRNA was overexpressed in a platelet- and megakaryocyte-specific manner in driver mutation positive MPN and that the quantitation of this gene expression can be used as a diagnostic marker for MPN. In this educational lecture, we discuss the clinical impacts of the mutations frequently identified in MPN patients.