bcr/abl-negative, classic myeloproliferative disorders: diagnosis and treatment.
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.
Tefferi
Ayalew
A
Division of Hematology, Mayo Clinic College of Medicine, 200 First St SW, Rochester, MN 55905, USA. tefferi.ayalew@mayo.edu
Barbui
Tiziano
T
D004921:Erythropoietin / Q000097:blood; D016313:Genes, abl / Q000235:genetics; D006801:Humans; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D011379:Prognosis
D004921:Erythropoietin