20-month old boy with splenomegaly, thrombocytosis, severe anemia and peripheral blasts
WBC: 29.6; HGB: 4.7; HCT: 13.4%; MCV: 85.9 fL; PLT: 900 (Diff: 36% polys; 30% lymphs; 12% monos; 6% eos; 2% basos; 1% myelocytes; 13% blasts; 12 nRBCs/100WBC). Peripheral blood smear. What is your differential diagnosis?
Two days later, after RBCs and fluids: WBC: 8.1; HGB: 9.2; HCT: 25.2; MCV: 85 fL; PLT: 250 (Diff: 47% polys; 29% lymphs; 7% monos; 8% blasts; 7% eos; 2% basos; 2% metas Bone marrow biopsy (HE, reticulin stain) and touch prep (clot). What is your differential diagnosis?
Juvenile chronic myelomonocytic leukemia (JMML), with some atypical features in the setting of neurofibromatosis type I