Myeloproliferative Neoplasms (MPN)

General (NEJM 2017;376:2168)

  • Results from clonal expansion of multipotent hematopoietic stem cell
  • Different from MDS in that the cells are not dysplastic (ie, normally developed)
  • Categories of MPN: polycythemia vera (PV); essential thrombocythemia (ET); primary myelofibrosis (PMF); chronic myelogenous leukemia (CML), BCR-ABL1 ⊕; atypical CML (aCML); chronic neutrophilic leukemia (CNL); systemic mastocytosis; chronic eosinophilic leukemia, not otherwise specified; myeloproliferative neoplasms unclassifiable
  • Mutations useful as clonal markers & dx tools:
    • Gain of fxn mutations in JAK2 V617F (Janus kinase) frequently present (PV ~95%, ET ~50%, PMF ~50%; NEJM 2005;352:1779)
    • BCR-ABL fusion n