Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment

Biol Blood Marrow Transplant. 2007 Jan;13(1 Suppl 1):64-72. doi: 10.1016/j.bbmt.2006.11.003.

Abstract

The Philadelphia chromosome (Ph)-negative myeloproliferative disorders (MPDs) include essential thrombocythemia (ET), idiopathic myelofibrosis (IMF), and polycythemia vera (PV). All of these disorders are clonal hematologic malignancies originating at the level of the pluripotent hematopoietic stem cell. Recently, activating mutations of the intracellular cytokine-signaling molecule JAK2 have been identified in > 90% of patients with PV and in 50% of those with IMF and ET. In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF. Both mutations activate JAK-STAT signaling pathways and likely play a role in disease progression. Both ET and PV are associated with prolonged clinical courses associated with frequent thrombotic and hemorrhagic events, and progression to myelofibrosis and acute leukemia. IMF has a much poorer prognosis and is associated with cytopenias, splenomegaly, extramedullary hematopoiesis, and bone marrow fibrosis. Stratification of risk for the development of complications from Ph-negative MPDs has guided the identification of appropriate therapies for this population. Intermediate/high-risk IMF or myelofibrosis after ET or PV is associated with a sufficiently poor prognosis to justify the use of allogeneic stem cell transplantation, which is capable of curing such patients. Reduced-intensity conditioning in preparation for allogeneic stem cell transplantation has permitted older patients with IMF to undergo transplantation with increasing success.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / physiology
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / therapy*
  • Philadelphia Chromosome
  • Signal Transduction

Substances

  • JAK2 protein, human
  • Janus Kinase 2