Abstract
Children with Down syndrome (DS) are at an increased risk of developing transient abnormal myelopoiesis (TAM) and acute leukemia. Aberrant expression of CD56 has been observed on myeloid leukemic blasts in DS patients. In general, CD56 expression in acute myeloid leukemia (AML) is considered a promoter of leukemogenesis. We did a retrospective flow cytometric study to investigate mature myelomonocytic cell CD56 expression patterns in TAM, non-TAM, and leukemia cases with DS. Flow cytometric analysis showed that granulocyte and monocyte aberrant/dysplastic CD56 expression is an inherent characteristic of most DS patients irrespective of the presence of TAM or leukemia. Increased CD56 expression in monocyte and granulocyte populations in DS could be multifactorial; greater expression of RUNX1 secondary to the gene dose effect of trisomy 21 along with the maturational state of the cells are the potential contributors. Unlike AML seen in non-DS patients, CD56 overexpression in DS AML cases does not appear to play a role in leukemogenesis.
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Funding
This study is supported partially by funds from Children’s Foundation and Kids Without Cancer Foundation. J.W.T. is supported by Ring Screw Textron Endowed Chair, and Y.R. is supported by Georgie Ginopolis chair award.
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M.G. performed flow cytometry data acquisition, listmode analysis, and wrote the manuscript; B.A. collected clinical data; S.B. performed flow cytometry data acquisition; J.W.T. edited the manuscript; Y.R. edited the manuscript; S.S. planned the study, analyzed the results, revised the manuscript, and approved the final version.
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This research study was conducted retrospectively using data obtained for clinical purposes. The IRB at Wayne State University has provided approval for this study. Signed informed consent requirement has been waived by the IRB at Wayne State University.
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Gadgeel, M., AlQanber, B., Buck, S. et al. Aberrant myelomonocytic CD56 expression in Down syndrome is frequent and not associated with leukemogenesis. Ann Hematol 100, 1695–1700 (2021). https://doi.org/10.1007/s00277-021-04531-x
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DOI: https://doi.org/10.1007/s00277-021-04531-x