A Patient with Pancytopenia

Peter W. Marks, MD

Yale University School of Medicine, New Haven, CT

Copyright of the American Society of Hematology, 2012. ISSN: 1931-6860.


  1. The differential diagnosis for pancytopenia includes a wide variety of conditions, including aplastic anemia, paroxysmal nocturnal hemoglobinuria, folate and vitamin B12 deficiency, myelophthisis (replacement of the marrow by fibrous tissue or by tumor cells), and acute leukemia.

  2. Acute myeloid leukemia may be associated with disseminated intravascular coagulation (DIC, consumptive coagulopathy). Acute promyelocytic leukemia is the type of leukemia most commonly associated with this, but DIC may occur in any subtype of acute myeloid leukemia.

  3. Acute myeloid leukemia is classified according to morphologic, histochemical, flow cytometric, cytogenetic, and molecular diagnostic features. Today, cytogenetic and molecular prognostic factors are crucial to categorizing patients into favorable, unfavorable, and intermediate risk groups.

  4. The categorization of acute myeloid leukemia is important because it facilitates appropriate further management. Patients with favorable risk disease can be treated with standard chemotherapy and avoid treatments that would not significantly improve their overall survival, whereas patients with unfavorable risk disease can consider therapeutic options such as hematopoietic stem cell transplant or clinical trials.

  5. Acute promyelocytic leukemia, one of the favorable risk leukemias, is most commonly associated with a t(15;17) translocation. This places the promyelocytic leukemia gene (PML) in juxtaposition with the retinoic acid receptor alpha gene (RARA) creating the PML-RARA fusion that impedes normal myeloid differentiation. Treatment of patients with all trans retinoic acid (ATRA) overcomes this block to differentiation and is associated with improvement in DIC and overall outcome when combined with conventional chemotherapy.

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