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Myelodysplastic syndrome

Discriminating a common somatic ASXL1 mutation (c.1934dup; p.G646Wfs*12) from artifact in myeloid malignancies using NGS

Leukemia volume 32, pages 1874–1878 (2018)Cite this article

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Mutations in the ASXL1 (additional sex comb-like 1) gene are common in several myeloid malignancies, including 14% of patients with myelodysplastic syndrome (MDS); 2–23% with myeloproliferative neoplasms (MPN); 5% with acute myeloid leukemia (AML); and 27–49% with chronic myelomonocytic leukemia (CMML) [1]. ASXL1 mutations have also been identified in patients with clonal hematopoiesis of indeterminate potential (CHIP) [2] and are associated with adverse survival in MDS, MPN, CMML, and AML [3, 4].

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Acknowledgements

We thank David Spencer, Chad Storer, and Catherine Cottrell for helpful discussions; and Felicitas Thol, Torsten Haferlach, Elli Papaemmanuil, Olivier Kosmider, and R. Coleman Lindsley for discussions and data related to their publications. Support was provided to MJW through a SPORE in Leukemia grant (P50CA171963) from the National Institutes of Health/National Cancer Institute (NIH/NCI), the Edward P. Evans Foundation, the Lottie Caroline Hardy Trust, and a Leukemia and Lymphoma Society Scholar Award. Support for procurement of human samples was provided by an NIH/NCI grant (P01CA101937). Technical assistance was provided by the Alvin J. Siteman Cancer Center Tissue Procurement Core supported by an NCI Cancer Center Support Grant (P30CA91842).

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Authors and Affiliations

  1. Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, USA

    Michael O. Alberti, Samantha N. McNulty, Jonathan W. Heusel & Eric J. Duncavage

  2. Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA

    Sridhar Nonavinkere Srivatsan, Jin Shao, Gue Su Chang, Christopher A. Miller, Qingsong Gao, Li Ding & Matthew J. Walter

  3. McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA

    Gue Su Chang, Christopher A. Miller, Qingsong Gao & Li Ding

  4. Department of Pathology, Oregon Health & Science University, Portland, OR, USA

    Jennifer B. Dunlap, Fei Yang & Richard D. Press

  5. Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA

    Fei Yang & Richard D. Press

  6. Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA

    Li Ding

  7. Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, USA

    Li Ding & Matthew J. Walter

Authors
  1. Michael O. Alberti
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  2. Sridhar Nonavinkere Srivatsan
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  12. Jonathan W. Heusel
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  14. Matthew J. Walter
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Contributions

Conception and design: MOA, EJD, MJW; methodology: MOA, SNS, EJD, CAM, QG, LD, MJW; data acquisition and analysis: MOA, SNS, JS, SNM, GSC, JBD, FY, RDP; interpretation of data: MOA, SNS, MJW; writing: MOA and MJW with all authors contributing to and approving the final manuscript; project supervision: JWH, EJD, MJW.

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Correspondence to Matthew J. Walter.

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Alberti, M.O., Srivatsan, S.N., Shao, J. et al. Discriminating a common somatic ASXL1 mutation (c.1934dup; p.G646Wfs*12) from artifact in myeloid malignancies using NGS. Leukemia 32, 1874–1878 (2018). https://doi.org/10.1038/s41375-018-0193-y

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