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Sep. 22, 2006 Molecular Basis of Myeloproliferative Disorders Stuart K

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Sep. 22, 2006 Molecular Basis of Myeloproliferative Disorders Stuart K

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    1. Sep. 22, 2006 Molecular Basis of Myeloproliferative Disorders Stuart Kornfeld

    2. Case #1 P.W., a 77 y/o man, with a history of venous thromboembolism and polycythemia, was referred in 9/04 for evaluation. In April, 2003, he was hospitalized with a pulmonary embolism and DVT. Treatment included IVC filter placement and anticoagulation, including long-term coumadin. He used oxygen intermittently for exertional hypoxia since then. A CBC in August 2004 reveals Hgb 18.2, Hct 57, WBC 6,900 and plts 745,000, so he was referred to M.B. On exam, no splenomegaly was noted. Lab data included Epo 1.8, ferritin 18, and normal pO2 at rest. In view of low EpO level, dx of P. Vera favored over polycythemia 2º to hypoxia. Treatment consisted of phlebotomy, an aspirin per day and continuation of the coumadin. By 3/05, Hgb 15.5, Hct 48.7, and Plts. 764,000. His platelet count gradually increased to 1,177,000 on 1/06 and Hydrea started. His last visit was 6/06 with CBC showing Hgb 10.5, WBC 4800, and plts. 355,000. On 1/06 visit, blood was collected for JAK-2 mutation analysis. Genomic DNA was extracted and a PCR-based assay performed for the point mutation causing JAK-2 V 617 F. It was positive for mutation.

    3. Case #2 J.M., a 67 y/o man, was referred to M.B. in 10/04 for follow-up care of a myeloproliferative disorder. The HPI began in 12/03 when a pre-op CBC showed WBC 24,300, Hgb 13.9, and plts. 1,167,000. Other lab tests were normal. PE unremarkable. No palpable hepatosplenomegaly. B.M. showed increased cellulocity of 65-75%, normal M:E ratio, minimal focal fibrosis and atypical megakaryocytes. Cytogenetics and BCR-ABl studies were normal. Dx was myeloproliferative disorder: essential thrombocythemia vs. early myelofibrosis. The high plt. Count and lack of splenomegaly favored ET whereas atypical megakarytocytes favored prefibrotic stage of chromic idiopathic myelofibrosis. Pt. Started on Anagrelide and plts. Decreased to 332,000 by 7/04 with stable Hgb and WBC of 15,900. He then moved to St. Louis. Course: Pt. Continued to do well. Possibility of switching from Anagrelide to Hydrea considered in view of recent data showing that Anagrelide associated with increased risk of venous thrombotic events and a slightly increased risk of myelofibrosis. It was decided not to change drug since he was doing so well. On 1/06 visit, blood collected for JAK-2 mutation analysis. It was positive for the JAK2 V617F mutation.

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