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Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis

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Abstract

Development of secondary CML has only been casually described, with few reports attempting to analyze and explain the mechanisms behind this phenomenon. Reported cases vary with regard to presumed pathogenesis and clinical characteristics, but similarities can be observed. This report presents the case of a patient diagnosed with CALR and ASXL1-mutated primary myelofibrosis who developed CML 13 years after the initial diagnosis. In contrast with previously reported cases, this patient did not have JAK2 or ABL1 gene mutations, and also exhibited primary resistance to tyrosine kinase inhibitor (TKI) treatment. Here, we analyze the molecular evolution of CML and describe successful treatment with concomitant therapy including a TKI and JAK inhibitor. This report aims to deepen clinical experience and further broaden knowledge about chronic myeloproliferative neoplasms.

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Author notes

  1. Patryk Sobieralski and Maria Bieniaszewska equally contributed to the work.

Authors and Affiliations

  1. Department of Hematology and Transplantology, Faculty of Medicine, Medical University of Gdańsk, Mariana Smoluchowskiego 17, 80-214, Gdańsk, Poland

    Patryk Sobieralski, Maria Bieniaszewska, Aleksandra Leszczyńska & Jan Maciej Zaucha

  2. Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gdańsk, Dębinki 1, 80-211, Gdańsk, Poland

    Monika Żuk & Bartosz Wasąg

Authors
  1. Patryk Sobieralski
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  2. Maria Bieniaszewska
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  3. Aleksandra Leszczyńska
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  4. Monika Żuk
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  5. Bartosz Wasąg
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  6. Jan Maciej Zaucha
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Corresponding author

Correspondence to Jan Maciej Zaucha.

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Sobieralski, P., Bieniaszewska, M., Leszczyńska, A. et al. Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis. Int J Hematol 116, 442–445 (2022). https://doi.org/10.1007/s12185-022-03331-x

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  • DOI: https://doi.org/10.1007/s12185-022-03331-x

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