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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.
Which of the following genetic abnormalities defines a favorable prognosis group?
- FLT3-ITD+, NPMl+
- Monoallelic CEBPA+, FLT3-ITD-
- NPM1+, FLT3-ITD-
- Biallelic CEBPA+, FLT3-ITD+
- NPMl-, FLT3-ITD-
Medicine
C. Presence of NPM1 mutation confers favorable prognosis in AML patients with normal cytogenetics, while FLT3-ITD is associated with poor outcomes. The presence ofbiallelic mutations in CEBPA is associated with a favorable mutation. Monoallelic CEBPA mutations do not appear to pre-dict the same favorable outcome (Blood. 201 1;1 18(4): 1 069, Blood. 20 1 1;118(20):5593, Blood.20 10;11 5(3 ):453).
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