Acute Myeloid Leukemia: Mutations Blocking Differentiation Lead to Distinct Leukemic Subtypes

  • Amy L. CummingsEmail author
  • Darren Pan
  • Gary J. Schiller


A 70-year-old African-American male presented to the emergency room for 1 month of fatigue, progressive dyspnea on exertion, and easy bruising. He endorsed a past medical history significant for insulin-dependent diabetes, chronic kidney disease, and nonischemic cardiomyopathy. He denied a family history of malignancy and noted he was a retired army mechanic with prior exposure to Agent Orange. At triage, his vital signs were within normal limits. His physical exam revealed pale mucous membranes, a normal cardiopulmonary exam, no hepatosplenomegaly, and trace peripheral edema. A complete blood count showed leukocytosis of 26,450 cells/μL comprised of 2.1% neutrophils, 11.8% lymphocytes, and 86.1% blasts. He had a normocytic anemia with hemoglobin 9.3 g/dL and thrombocytopenia of 18,000 platelets/μL. Coagulation studies identified an elevated international normalized ratio (INR) of 1.6 (normal ≤1.1) and prothrombin time of 17.1 s (normal 8.9–11.4 s) and a decreased fibrinogen of 106 mg/dL (normal 217–420 mg/dL). A peripheral blood smear presented numerous circulating immature myeloid cells intermediate in size with scant cytoplasm, azurophilic granules, and folded nuclei (Fig. 15.1).


Acute myeloid leukemia (AML) Acute promyelocytic leukemia (APL) Promyelocytic leukemia protein-retinoic acid receptor alpha (PML-RARa) Isocitrate dehydrogenase (IDH) Differentiation 


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Amy L. Cummings
    • 1
    Email author
  • Darren Pan
    • 1
  • Gary J. Schiller
    • 1
  1. 1.Aramont Program for Clinical/Translational Research in Human MalignanciesDavid Geffen School of Medicine at UCLALos AngelesUSA

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