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Incidence and prognostic impact of ASXL2 mutations in adult acute myeloid leukemia patients with t(8;21)(q22;q22): a study of the German-Austrian AML Study Group

Leukemia volume 31, pages 1012–1015 (2017)Cite this article

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Acute myeloid leukemia (AML) with t(8;21)(q22;q22)/RUNX1/RUNX1T1 is categorized as a distinct entity within the WHO category ‘AML with recurrent genetic abnormalities’.1 The RUNX1/RUNX1T1 fusion constitutes a pre-leukemic condition, but additional co-operating genetic events are necessary to induce a leukemic phenotype.2 Although AML with t(8;21) is considered as a favorable AML subset, only ~50% of patients can be cured following intensive treatment.3, 4 Comprehensive genetic characterization might contribute to a better understanding of the disease biology and prognostication, as well as to the development of novel treatment approaches.

Approximately half of the patients with t(8;21) AML harbor additional gene mutations, with KIT, NRAS, FLT3 and ASXL1 representing the most frequently mutated genes.5 Recurrent mutations in ASXL2 (additional sex combs-like 2) were first identified in pediatric core-binding factor (CBF) AML.6 To date, the role of ASXL2 in normal hematopoiesis and the potential contribution of ASXL2 mutations to malignant transformation have not been defined. Of note, ASXL2 shares a high-degree amino-acid homology with the paralog ASXL1, an epigenetic modifier involved in transcriptional regulation, which is frequently mutated in myeloid malignancies.7, 8, 9

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Acknowledgements

This work was supported in part by grants from the Deutsche Krebshilfe (No. 109675).

Author contributions

Conception and design: Nikolaus Jahn, Peter Paschka and Konstanze Döhner. Provision of study materials or patients: Nikolaus Jahn, Mridul Agrawal, Lars Bullinger, Daniela Weber, Andrea Corbacioglu, Verena I Gaidzik, Laura Schmalbrock, Felicitas Thol, Michael Heuser, Jürgen Krauter, Gudrun Göhring, Andrea Kündgen, Walter Fiedler, Mohammed Wattad, Gerhard Held, Claus-Henning Köhne, Heinz-A Horst, Michael Lübbert, Arnold Ganser, Richard F Schlenk, Hartmut Döhner, Konstanze Döhner and Peter Paschka. Collection and assembly of data: Richard F Schlenk, Daniela Weber, Nikolaus Jahn, Peter Paschka and Konstanze Döhner. Data analysis and interpretation: Daniela Weber, Nikolaus Jahn, Hartmut Döhner, Peter Paschka and Konstanze Döhner. Manuscript writing: Nikolaus Jahn, Peter Paschka and Konstanze Döhner. Final approval of manuscript: Nikolaus Jahn, Mridul Agrawal, Lars Bullinger, Daniela Weber, Andrea Corbacioglu, Verena I Gaidzik, Laura Schmalbrock, Felicitas Thol, Michael Heuser, Jürgen Krauter, Gudrun Göhring, Andrea Kündgen, Walter Fiedler, Mohammed Wattad, Gerhard Held, Claus-Henning Köhne, Heinz-A Horst, Michael Lübbert, Arnold Ganser, Richard F Schlenk, Hartmut Döhner, Konstanze Döhner and Peter Paschka.

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Author notes

  1. K Döhner and P Paschka: These authors contributed equally to this work.

Authors and Affiliations

  1. Klinik für Innere Medizin III, Universitätsklinikum Ulm, Ulm, Germany

    N Jahn, M Agrawal, L Bullinger, D Weber, A Corbacioglu, V I Gaidzik, L Schmalbrock, R F Schlenk, H Döhner, K Döhner & P Paschka

  2. Klinik für Hämatologie, Hämostaseologie, Onkologie und Stammzelltransplantation, Medizinische Hochschule Hannover, Hannover, Germany

    F Thol, M Heuser & A Ganser

  3. Medizinische Klinik III, Klinikum Braunschweig, Braunschweig, Germany

    J Krauter

  4. Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany

    G Göhring

  5. Klinik für Hämatologie, Onkologie und Klinische Immunologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany

    A Kündgen

  6. II. Medizinische Klinik und Poliklinik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany

    W Fiedler

  7. Klinik für Hämatologie, internistische Onkologie und Stammzellentransplantation, Evangelisches Krankenhaus Essen-Werden, Essen, Germany

    M Wattad

  8. Innere Medizin I, Universitätsklinikum des Saarlandes und Medizinische Fakultät der Universität des Saarlandes, Homburg, Germany

    G Held

  9. Universitätsklinik für Innere Medizin - Onkologie und Hämatologie, Klinikum Oldenburg, Oldenburg, Germany

    C-H Köhne

  10. Klinik für Innere Medizin II, Universitätsklinikum Schleswig-Holstein Campus Kiel, Kiel, Germany

    H-A Horst

  11. Klinik für Innere Medizin I, Universitätsklinikum Freiburg, Freiburg, Germany

    M Lübbert

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  1. N Jahn
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Corresponding author

Correspondence to P Paschka.

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Jahn, N., Agrawal, M., Bullinger, L. et al. Incidence and prognostic impact of ASXL2 mutations in adult acute myeloid leukemia patients with t(8;21)(q22;q22): a study of the German-Austrian AML Study Group. Leukemia 31, 1012–1015 (2017). https://doi.org/10.1038/leu.2017.18

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