Myelofibrosis diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]

Overview

Diagnosis of myelofibrosis may be made based upon a thorough clinical evaluation, detailed patient history, and specialized tests. The World Health Organization (WHO) has set the criteria for diagnosing primary myelofibrosis (PMF). It has determined set rules for distinguishing the prefibrotic/early (pre-primary myelofibrosis) phase and the overtly fibrotic (overt primary myelofibrosis) phase. The World Health Organization (WHO) has also introduced a proposed revised criteria for primary myelofibrosis (PMF).

Diagnostic Criteria

According to the World Health Organization (WHO) diagnostic criteria for primary myelofibrosis, polycythemia vera, and essential thrombocythemia, the diagnosis of primary myelofibrosis is made when all three of the following major diagnostic criteria and at least two minor criteria are met.

Major Criteria	Minor Criteria
I. On bone marrow biopsy, proliferation and atypia of megakaryocytes, with or without reticulin or collagen fibrosis and it must be accompanied by hypercellular bone marrow II. Finding of JAK2-V617F mutation or other clonal marker III. Not meeting the WHO criteria for chronic myeloid leukemia (CML), polycythemia vera (PV), myelodysplastic syndrome (MDS), or other myeloid neoplasm	I. Anemia II. Increased serum lactate dehydrogenase (LDH) III. Leukoerythroblastosis on blood smear IV. Palpable splenomegaly