A 73-year-old woman presents to her physician with persistent headaches and dizziness. Her physical examination is notable for hypertension and splenomegaly. Her complete blood cell count is abnormal and a bone marrow biopsy is performed. A representative section of the bone marrow biopsy is shown in Figure 1. Use this scenario to answer the following three questions.
Which one of the following sets of factors is most important to establish a definitive diagnosis for this patient?
Diagnosis: Myeloproliferative neoplasms/polycythemia vera
• Myeloproliferative neoplasms (MPNs) are a group of clonal bone marrow disorders characterized by proliferation in the bone marrow with or without elevated peripheral blood counts.
• MPNs are frequently associated with atypical megakaryocytes and varying degrees of fibrosis on bone marrow biopsy.
• MPNs are characterized by bone marrow and peripheral cell counts and specific molecular alterations.
• Chronic myelogenous leukemia (CML) is associated with breakpoint cluster region-Abelson (BCR-ABL) translocations.
• Myeloid neoplasms with eosinophilia are associated with platelet-derived growth factor receptor-α (PDGFRA), platelet-derived growth factor receptor-β (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) translocations.
• Polycythemia vera (PV) is associated with Janus kinase 2 V617F (JAK2 V617F) and exon 12 mutations.
• Primary myelofibrosis (PMF) is associated with JAK2 V617F and myeloproliferative leukemia virus W151L/K (MPL W151L/K) mutations.
• Essential thrombocytosis is associated with JAK2 V617F and MPL W151L/K mutations.
• Mastocytosis is associated with KIT D816V mutations.
• PV often progresses to a spent or post-polycythemic phase with resolution of polycythemia; however, it may progress to a myelodysplastic syndrome (MDS) or acute leukemia in rare cases.
