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Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145:788–800.
Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126:9–16.
Gelsi-Boyer V, Brecqueville M, Devillier R, Murati A, Mozziconacci MJ, et al. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5:12.
Dohner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Buchner T, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129:424–47.
Abdel-Wahab O, Kilpivaara O, Patel J, Busque L, Levine RL. The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration. Leukemia. 2010;24:1656–7.
Metzeler KH, Becker H, Maharry K, Radmacher MD, Kohlschmidt J, Mrozek K, et al. ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category. Blood. 2011;118:6920–9.
Thol F, Friesen I, Damm F, Yun H, Weissinger EM, Krauter J, et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol. 2011;29:2499–506.
Yannakou CK, Jones K, McBean M, Thompson ER, Ryland GL, Doig K, et al. ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach. Blood Cancer J. 2017;7:656.
Uy GL, Duncavage EJ, Chang GS, Jacoby MA, Miller CA, Shao J, et al. Dynamic changes in the clonal structure of MDS and AML in response to epigenetic therapy. Leukemia. 2017;31:872–81.
Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28:241–7.
Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012;119:3578–84.
Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122:3616–27.
Lindsley RC, Saber W, Mar BG, Redd R, Wang T, Haagenson MD, et al. Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation. N Engl J Med. 2017;376:536–47.
Carter JH, McNulty SN, Cimino PJ, Cottrell CE, Heusel JW, Vigh-Conrad KA, et al. Targeted next-generation sequencing in molecular subtyping of lower-grade diffuse gliomas: application of the World Health Organization’s 2016 revised criteria for central nervous system tumors. J Mol Diagn. 2017;19:328–37.
Feng W, Zhao S, Xue D, Song F, Li Z, Chen D, et al. Improving alignment accuracy on homopolymer regions for semiconductor-based sequencing technologies. BMC Genom. 2016;17:521.
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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The authors declare that they have no conflict of interest.
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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
International Journal of Hematology (2021)
Spectrum of ASXL1 mutations in primary myelofibrosis: prognostic impact of the ASXL1 p.G646Wfs*12 mutation