Myeloproliferative Disease Differential Diagnoses

Updated: Aug 31, 2022
  • Author: Haleem J Rasool, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Diagnostic Considerations

Primary myelofibrosis (PMF) should be distinguished from other myeloid neoplasms including chronic myeloid leukemia (CML), PV, ET, MDS, and chronic myelomonocytic leukemia (CMML). The presence of dwarf megakaryocytes raises the possibility of CML and should be pursued with BCR‐ABL1 cytogenetic or molecular testing. [21]

Patients who otherwise fulfill the diagnostic criteria for PV should be labeled as “PV” even if they display substantial bone marrow fibrosis. [21]

Prefibrotic PMF can mimic ET in its presentation and mutation profile (both can express JAK2CALR or MPL mutations) and careful morphologic examination is necessary for distinguishing the two; megakaryocytes in ET are large and mature‐appearing whereas those in prefibrotic PMF display abnormal maturation with hyperchromatic and irregularly folded nuclei. [21]

MDS should be suspected in the presence of dyserythropoiesis or dysgranulopoiesis. CMML is a possibility in the presence of peripheral blood monocyte count of greater than 1 × 109/L. Patients with acute myelofibrosis (either acute panmyelosis with myelofibrosis or acute megakaryoblastic leukemia) usually present with severe constitutional symptoms, pancytopenia, mild or no splenomegaly, and increased circulating blasts. [21]

Differential Diagnoses