bcr/abl-negative, classic myeloproliferative disorders: diagnosis and treatment

Mayo Clin Proc. 2005 Sep;80(9):1220-32. doi: 10.4065/80.9.1220.

Abstract

Essential thrombocythemia, polycythemia vera, and myelofibrosis with myeloid metaplasia constitute the "classic" bcr/abl-negative myeloproliferative disorders (MPDs). Each of these MPDs represents a stem cell-derived clonal myeloproliferation with the respective features of thrombocytosis, erythrocytosis, and bone marrow fibrosis. Unlike with cases of chronic myeloid leukemia, in which the bcr/abl mutation is invariably detected, current diagnosis of essential thrombocythemia, polycythemia vera, and myelofibrosis with myeloid metaplasia is based on a consensus-driven set of clinical and laboratory criteria that have undergone substantial modification in recent times. The recent discovery of a recurrent activating Janus tyrosine kinase (JAK2) mutation (JAK2VG17F) in all 3 classic MPDs offers another opportunity for refining current diagnoses and disease classifications. In this article, we outline contemporary diagnostic algorithms for each of these disorders and provide an evidence-based approach to management.

Publication types

  • Review

MeSH terms

  • Erythropoietin / blood
  • Genes, abl / genetics
  • Humans
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / therapy*
  • Prognosis

Substances

  • Erythropoietin