Advances in the Diagnosis of Myeloproliferative Neoplasms

Abstract

Philadelphia chromosome-negative classical myeloproliferative neoplasms include polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In recent years, there have been major advances in our understanding of the molecular pathophysiology of these rare subgroups of myeloproliferative neoplasms. The World Health Organization diagnostic criteria were revised in 2008, and incorporated new somatic mutations of JAK2 V617F, found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Subsequently, other mutations (MPL W515 and CALR) were discovered and this led to substantial changes in the diagnosis and treatment guidelines. This article reviews the diagnostic criteria for Philadelphia chromosome-negative classical myeloproliferative neoplasms, and changes in the diagnostic algorithm for clinical practice in Korea. (Korean J Med 2016;90:281-287)