Somatic mutations in Philadelphia chromosome-negative myeloproliferative neoplasms

Myeloproliferative neoplasms (MPN) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). MPN are characterized by clonal proliferation of myeloid progenitors leading to erythrocytosis, thrombocytosis and/or leukocytosis, and risk of hemorrhagic and thrombotic events, as well as myelofibrosis and blast transformation.The discovery of somatic mutations in MPN, namely JAK2 V617F, JAK2 exon 12, MPL, and CALR mutations, has permitted a more specific approach to diagnosis and treatment.

Source: Seminars in Hematology - April 17, 2018 Category: Hematology Authors: S érgio Ferreira Cristina, Blanca Polo, João F. Lacerda Source Type: research