The changes in the nomenclature, classification and diagnostic criteria of myeloproliferative disorders according WHO classification 2008
Authors:
J. Marcinek; L. Plank; P. Szépe
Authors‘ workplace:
Komenského a Martinskej fakultnej nemocnice, Martin
; Ústav patologickej anatómie a Konzultačné centrum hematopatológie Jesseniovej lekárskej fakulty Univerzity
Published in:
Transfuze Hematol. dnes,16, 2010, No. 1, p. 35-41.
Category:
Comprehensive Reports, Original Papers, Case Reports
Overview
The WHO classification of myeloid neoplasms published in 2008 (WHO-2008) is based on verified and accepted WHO classification 2001. It relies on tumor cell morphology evaluated in bone marrow (BM) biopsy and/or aspirate or in peripheral blood (PB) smears in correlation with clinical and laboratory (incl. genetic) data. The term “myeloproliferative disorders“ has been replaced by “myeloproliferative neoplasms“ to accent their malignant potential and the genetic approach has been introduced into MPN diagnostics. The myeloid neoplasms with eosinophilia and platelet derived- or fibroblast growth factor receptor 1 mutation are distinguished from chronic eosinophilic leukemia. The neoplastic mast cells proliferations are included in the MPN group, but their sub-classification remains unchanged. In the CML category the only change involves the need to reevaluate criteria of accelerated phase. The most important innovation is the implementation of specific Janus 2 tyrosine kinase mutation (JAK2 V617F) into the diagnostic criteria of chronic Ph1- MPN. Presence of this mutation or of activating JAK2 exon 12 mutations represents a typical finding in polycythemia vera (PV) patients, what together with typical clinical and laboratory data leads to PV diagnosis even in the absence of BM biopsy. WHO-2008 refers to initial stages of PV with borderline increase of hemoglobin and/or thrombocytosis in PB (clinically resembling essential thrombocythemia /ET/) and emphasizes the PV progress from initial to polycythemic phase with polyglobulia and final transformation to terminal “spent phase“ with distinct BM fibrosis and pancytopenia. Chronic idiopathic myelofibrosis is by WHO-2008 called “primary myelofibrosis“ (PMF). The key role in the PMF diagnosis plays BM biopsy (characteristic BM morphology) as well as demonstration of the clonality of the disease (JAK2V617F or thrombopoietin receptor mutations). WHO-2008 clearly defines the prefibrotic and fibrotic stages of PMF with significantly different patient’s survival rates. For ET diagnosis the arbitrary level of PB thrombocytes was lowered from previous 600 to 450x109/L. In contrast to previous classification requiring ET diagnosis per exclusion of other MPN, WHO-2008 introduces the positive diagnostic ET criteria (JAK2V617F or characteristic BM morphology).
Key words:
myeloproliferative disorders, myeloproliferative neoplasms, WHO classification, diagnostic criteria, chronic myeloid leukemia, polycythemia vera, primary myelofibrosis, esential thrombocythemia, JAK2
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