Morphology of Myeloid Leukemia of Down Syndrome
Kelley Mast, Jeffrey W Taub, Claudio Mosse, Prasad Mathew, Johann Hitzler, Todd Alonzo, Heath Jones, Alan S Gamis, David Head. Vanderbilt University, Nashville, TN; Indiana University, Indianapolis, IN; Wayne State University, Detroit, MI; Children's Mercy Hospitals and Clinics, Kansas City, MO; Children's Oncology Group, Arcadia, CA; University of New Mexico, Albuquerque, NM; Hospital for Sick Children, Toronto, ON, Canada
Background: Down syndrome (DS) has a 46X increased incidence of acute myeloid leukemia (AML) with reported megakaryocytic (MK) differentiation and frequently preceding myelodysplastic syndrome (MDS). Associated mutations of GATA-1, a transcription factor involved in erythroid (E) and MK differentiation, are often seen. Due to the lack of clinical difference in MDS and AML-MK in DS, the WHO combines these entities as AML-DS, but subtypes differ cytologically.
Design: Bone marrows from 162 patients on COG protocol AAML0431 (Treatment of DS Children with AML and MDS) were evaluated for blasts, dysplasia, fibrosis, and immunophenotype. Cases were classified using modified WHO criteria as MDS-DS, AML-MK, AML-E, mixed AML-MK/E, and AML NOS (non-MK or -E).
Results: Of cases reviewed, 57 had MDS and 105 had AML.