ASXL2 mutation is recurrent in non-de novo AML1-ETO-negative acute myeloid leukemia
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ASXL1, ASXL2, and ASXL3 compose the additional sex comb-like family, and they function as epigenetic regulators through recruitment of polycomb group repressor complexes (PRC). ASXL2 acts as a tumor suppressor in hematopoiesis [1, 2, 3]. ASXL2 deletion in hematopoietic stem cells (HSCs) leads to the development of myelodysplastic syndrome (MDS)-like disease or myeloid leukemia, and its mechanism is related to H3K27ac and H3K4me1/2 dysregulation . ASXL1 mutation can be found in multiple spectra of myeloid malignancies, including various subtypes of acute myeloid leukemia (AML) . Unlike ASXL1 mutation, ASXL2 mutation is largely restricted to AML1-ETO positive AML [5, 6, 7, 8, 9, 10]. It has been demonstrated that ASXL2 target genes strongly overlap with those of RUNX1 and AML1-ETO, and the loss of ASXL2 promotes leukemogenesis via increasing chromatin accessibility at putative enhancers of key leukemogenic loci . However, the status and frequency of ASXL2mutation...
We thank all members of the Zhejiang University Institute of Hematology as well as the Department of Laboratory Medicine of the First Affiliated Hospital to the Zhejiang University College of Medicine for technical support to diagnosis.
X. Z., J.J., and W.-J. Y. collected and analyzed the clinical data and made the summary. X. Z. designed this study and wrote this manuscript. J.J. and W.-J. Y. revised this manuscript. All authors approved the manuscript.
This work was supported by the National Natural Science Foundation of China (81670124, 81800199).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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