CYTOPENIAS TO POLYCYTHEMIA VERA: AN UNUSUAL CASE R Shaukat MD, T Benzar MD, P Ramadas MD. Department of Medicine, LSU Health Sciences Center, Shreveport, Louisiana
INTRODUCTION Hematological malignancies can take years to develop and may be preceded by clonal mutations. We describe an interesting case of evolution of a hematological disorder from cytopenias requiring growth factor support to polycythemia vera requiring disease specific therapy to secondary myelofibrosis.
CASE: An 81-year-old woman, who was referred to hematology in 2006 at the age of 67 for leukopenia. CBC showed WBC 2600/ uL with ANC 620/uL, hemoglobin 14.9 g/dL and platelets 156,000/uL. Bone marrow biopsy showed mild dysplasia with normal cytogenetics, not diagnostic of myelodysplastic syndrome. Testing for clonal mutations were not performed at that time. Over time, she developed worsening leukopenia with anemia and decision made to initiate granulocyte colony- stimulating factor along with darbepoetin alfa. This was continued for a decade with stable counts. In early 2019, she developed thrombocytosis and erythrocytosis. Workup revealed JAK2 V617F mutation. She was started on phlebotomy and hydroxyurea. As she developed mucositis, hydroxyurea was switched to ruxolitinib. Over the next few months, she was noted to develop a leukoerythroblastic blood picture. Flow cytometry of blood showed increased myeloblasts of 6.5% of total cells. Bone marrow biopsy showed hypercellular marrow with atypical megakaryocytic hyperplasia, erythroid hypoplasiawithmoderate to severe reticulin fibrosis, consistent with secondarymyelofibrosis given history of polycythemia vera. Cytogenetics showed normal karyotype. Next generation sequencing showed ASXL1 mutation along with JAK2 mutation. Ultrasound of the abdomen showed splenomegaly. Given that the blast count was less than 10%, decision made to continue ruxolitinib with the plan of initiating a hypomethylating agent if disease progression. She is currently doing well with stable counts and is being closely monitored. DISCUSSION: This is an unusual case where a patient with cytopenias, either idiopathic cytopenia of undetermined significance or clonal cytopenia of undetermined significance requiring growth factor support, acquired a JAK2 mutation requiring reversal of the treatment goal to phlebotomy and cytoreduction and eventually developed secondary myelofibrosis. It is unknown whether the JAK2 mutation occurred rather by chance or if the use of G-CSF contributed.
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