Workup/Results

Assessment in the hematology/oncology clinic includes a thorough history, repeat CBC with differential, serum erythropoietin (EPO) level, peripheral blood JAK2 mutation analysis, and a physical examination. 


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Pertinent history No prior history of cardiac or pulmonary disease, and no prior thrombosis

Laboratory test results CBC is consistent with trilineage myeloproliferation: WBC 21,000/µL with no blasts, Hct 66%, and platelets 650,000/µL; EPO is undetectable; and JAK2 mutation analysis is positive. 

Imaging Echocardiography was performed due to complaints of chest pain at presentation; however, no abnormal findings are noted.

Physical examination findings BP 150/88, otherwise vital signs are within normal limits. The patient is well-appearing, thin, with flushed cheeks. Cardiac and pulmonary examination findings are unremarkable. No palpable hepatosplenomegaly and no peripheral edema were noted. 

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The patient did not undergo bone marrow biopsy; however, a diagnosis of polycythemia vera (PV) is made based on the following major diagnostic criteria: Hct greater than 49%, subnormal EPO level, and the presence of JAK2 V617Fmutation. Of note, at the time of this diagnosis, bone marrow biopsy showing hypercellular bone marrow with trilineage proliferation was not a major diagnostic criterium, but this was changed with the 2016 WHO classification and diagnostic criteria for PV.  

What is the greatest clinical concern given the above laboratory test findings?

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