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A LJ8-year-old male presen ts to the emergency room for further evaluation of a 3-week history of progressively worsening Fatigue. Physical examination reveals pal lor and dif-Fuse petech iae over lower extremities. Laboratory evaluation shows a total leukocyte cou nt of 2 3, LJOO/,uL. hemoglobin 9.8 g/dl. and platelet count of 1 3, 000/,uL. Periph-eral blood smear and bone marrow aspirate are shown.
Presence of which of the following is associated with worse outcomes in patients with AML bear-ing t(8;21)?
- t(8;14)
- KIT D816V mutation
- JAK2 V61 7F mutation
- t(1 1; 14)
- Hyperdiploidy
Medicine
B. Presence of KIT D8 16V mutation is associated with a negative outlook in patients with core-binding factor AML harboring t(8;21 ), t(l6; 16), or inv(1 6), otherwise classified in the favorable prognosis group. This mutation has been reported in 30% to 40% of adults and increases the relapse rate from 30% to 70% (! Clin Oneal. 2006;34(24):3904, Br J Haematol. 2010;148(6):925).
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