Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431

Mast KJ, Taub JW, Alonzo TA, Gamis AS, Mosse CA, Mathew P, Berman JN, Wang YC, Jones HM, Campana D, Coustan-Smith E, Raimondi SC, Hirsch B, Hitzler JK, Head DR. Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431. Arch Pathol Lab Med. 2020 Apr;144(4):466-472. doi: 10.5858/arpa.2018-0526-OA. Epub 2019 Aug 20. PMID: 31429606; PMCID: PMC7031019.

Detailed diagnostic features of acute myeloid leukemia in Down syndrome are lacking, leading to potential misdiagnoses as standard acute myeloid leukemia occurring in patients with Down syndrome. Diagnostic bone marrow samples from 163 patients enrolled in the Children’s Oncology Group study AAML0431 were evaluated by using central morphologic review and institutional immunophenotyping. Results were compared to overall survival, event-free survival, GATA1 mutation status, cytogenetics, and minimal residual disease results.