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A 7 LJ-year-old male with h istory of coronary and peripheral arterial disease presents to the emergency departmen t complaining of a painful. blue. fourth righ t toe . Patien t reports progressively worsening dark blue discoloration over the last 3 days. Patien t also reports several mon ths of burning sensation in h is hands and feet and left upper quadran t discom fort. Laboratory workup reveals leukocyte count of 1 5 .200/,LLL. he-moglobin of 1 LJ.6 g/d l. and platelet count of 82 5 .000/,LLL. Peripheral blood smear and bone marrow aspirate are shown below.
What would be the next most appropriate step in management?
- Testing for BCR-ABL gene rearrangement
- Testing for MPL mutation
- Testing for JAK2 mutation
- Both A and C
- Testing for thrombopoietin level (TPO)
Medicine
D. Mutations in JAK2 have been reported in approximately 40% to 50% ofET cases (Blood. 2005;106(6):2162, NEJM. 2005;352(17):1779). Ruling out chronic myeloid leukemia (CML) is essen- tial, given the completely different approach to management. Mutations in MPL gene have been re-ported in less than 5% of ET cases (Blood. 2006;1 08(10):3472, Blood. 2008; 1 12(1):141). Testing for TPO levels is not useful in differentiating primary from secondary forms of thrombocytosis (Br J Haematol. 1997;99(2):28 1).
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