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

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  • Additional Information
    • Affiliation:
      Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee
      Division of Hematology/Oncology, Children's Hospital of Michigan,Wayne State University, Detroit
      Department of Biostatistics, University of Southern California, Monrovia
      Division of Hematology/Oncology/Bone Marrow Transplantation, Children's Mercy Hospital, Kansas City, Missouri
      Pathology and LaboratoryMedicine Service, VATennessee Valley Healthcare System, Nashville
      Department of Pediatrics, University of New Mexico, Albuquerque
      Division of Hematology-Oncology, IWK Health Centre, Halifax, Nova Scotia, Canada
      Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee
      Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, The National University Cancer Institute, NUH Medical Centre, Singapore
      Departments of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee
      Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis
      Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada
      Division of Hematology/Oncology, The Hospital for Sick Children Developmental and Stem Cell Biology, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada
    • Subject Terms:
    • Subject Terms:
    • Abstract:
      Context.--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. Objective.--To evaluate diagnostic features of acute myeloid leukemia and myelodysplastic syndrome in patients with Down syndrome. Design.--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. Results.--Sixty myelodysplastic syndrome and 103 acute myeloid leukemia samples were reviewed. Both had distinctive features compared to those of patients without Down syndrome. They showed megakaryocytic and erythroid but little myeloid dysplasia, and marked megakaryocytic hyperplasia with unusual megakaryocyte morphology. In acute myeloid leukemia cases, megakaryoblastic differentiation of blasts was most common (54 of 103, 52%); other cases showed erythroblastic (11 of 103, 11%), mixed erythroid/megakaryoblastic (20 of 103, 19%), or no differentiation (10 of 103, 10%). Myelodysplastic syndrome and acute myeloid leukemia cases had similar event-free survival and overall survival. Leukemic subgroups showed interesting, but not statistically significant, trends for survival and minimal residual disease. Cases with institutional diagnoses of French American British M1-5 morphology showed typical features of Down syndrome disease, with survival approaching that of other cases. Conclusions.--Myelodysplastic syndrome and acute myeloid leukemia in Down syndrome display features that allow discrimination from standard cases of disease. These distinctions are important for treatment decisions, and for understanding disease pathogenesis. We propose specific diagnostic criteria for Down syndrome--related subtypes of acute myeloid leukemia and myelodysplastic syndrome.
    • Journal Subset:
      Allied Health; Biomedical; Peer Reviewed; USA
    • ISSN:
      0003-9985
    • MEDLINE Info:
      NLM UID: 7607091
    • Publication Date:
      20200410
    • Publication Date:
      20200423
    • DOI:
      10.5858/arpa.2018-0526-OA
    • Accession Number:
      142624459
  • Citations
    • ABNT:
      MAST, K. J. et al. Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431. Archives of Pathology & Laboratory Medicine, [s. l.], v. 144, n. 4, p. 466–472, 2020. DOI 10.5858/arpa.2018-0526-OA. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=142624459. Acesso em: 30 set. 2020.
    • AMA:
      Mast KJ, Taub JW, Alonzo TA, et al. Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431. Archives of Pathology & Laboratory Medicine. 2020;144(4):466-472. doi:10.5858/arpa.2018-0526-OA
    • APA:
      Mast, K. J., Taub, J. W., Alonzo, T. A., Gamis, A. S., Mosse, C. A., Mathew, P., Berman, J. N., Yi-Cheng Wang, Jones, H. M., Campana, D., Coustan-Smith, E., Raimondi, S. C., Hirsch, B., Hitzler, J. K., & Head, D. R. (2020). Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431. Archives of Pathology & Laboratory Medicine, 144(4), 466–472. https://doi.org/10.5858/arpa.2018-0526-OA
    • Chicago/Turabian: Author-Date:
      Mast, Kelley J., Jeffrey W. Taub, Todd A. Alonzo, Alan S. Gamis, Claudio A. Mosse, Prasad Mathew, Jason N. Berman, et al. 2020. “Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431.” Archives of Pathology & Laboratory Medicine 144 (4): 466–72. doi:10.5858/arpa.2018-0526-OA.
    • Harvard:
      Mast, K. J. et al. (2020) ‘Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431’, Archives of Pathology & Laboratory Medicine, 144(4), pp. 466–472. doi: 10.5858/arpa.2018-0526-OA.
    • Harvard: Australian:
      Mast, KJ, Taub, JW, Alonzo, TA, Gamis, AS, Mosse, CA, Mathew, P, Berman, JN, Yi-Cheng Wang, Jones, HM, Campana, D, Coustan-Smith, E, Raimondi, SC, Hirsch, B, Hitzler, JK & Head, DR 2020, ‘Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431’, Archives of Pathology & Laboratory Medicine, vol. 144, no. 4, pp. 466–472, viewed 30 September 2020, .
    • MLA:
      Mast, Kelley J., et al. “Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431.” Archives of Pathology & Laboratory Medicine, vol. 144, no. 4, Apr. 2020, pp. 466–472. EBSCOhost, doi:10.5858/arpa.2018-0526-OA.
    • Chicago/Turabian: Humanities:
      Mast, Kelley J., Jeffrey W. Taub, Todd A. Alonzo, Alan S. Gamis, Claudio A. Mosse, Prasad Mathew, Jason N. Berman, et al. “Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431.” Archives of Pathology & Laboratory Medicine 144, no. 4 (April 2020): 466–72. doi:10.5858/arpa.2018-0526-OA.
    • Vancouver/ICMJE:
      Mast KJ, Taub JW, Alonzo TA, Gamis AS, Mosse CA, Mathew P, et al. Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children’s Oncology Group Protocol AAML0431. Archives of Pathology & Laboratory Medicine [Internet]. 2020 Apr [cited 2020 Sep 30];144(4):466–72. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=142624459