Abstract
Chronic neutrophilic leukemia (CNL) is primarily diagnosed by excluding myelodysplastic syndromes (MDS). We report the case of a patient who developed secondary CNL 3 years after hypoplastic MDS. We used droplet digital polymerase chain reaction mutation detection assay to analyze genomic alterations during the progression from MDS to CNL. At the time of MDS diagnosis, U2AF1 Q157P and SETBP1 D868N were dominant and additional mutation of ASXL1 1934_insG was observed. CSF3R T618I and SETBP1 D868N were increasing at the time of CNL diagnosis. We revealed the accumulation of multiple gene mutations during CNL development from MDS. This suggests that CNL was clonally developed from the founding clone of MDS and CSF3R mutation contributes to the development of CNL in the present case. These findings provide insights into the pathology of CNL.
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The data that support the findings are available from the corresponding author.
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Acknowledgements
The authors would like to thank Atsuko Nagawasa, Misuzu Sato, Yumi Kawaguchi, Risa Ooshita, Tomoya Kawada, So Murai, and Takafumi Ogawa.
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YB designed the study and drafted the manuscript. YB, HS, NK, and HH provided clinical care to the patient. YB, TN, and KF performed laboratory studies. YB, NT, KF, and HS performed data analysis. NT and NH supervised the study. All authors approved the manuscript to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
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Baba, Y., Nakamaki, T., Sakai, H. et al. Chronic neutrophilic leukemia preceded by myelodysplastic syndromes. Int J Hematol 118, 636–641 (2023). https://doi.org/10.1007/s12185-023-03636-5
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DOI: https://doi.org/10.1007/s12185-023-03636-5