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SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
Meggendorfer M, Bacher U, Alpermann T, Haferlach C, Kern W, Gambacorti-Passerini C, Haferlach T, Schnittger S. Meggendorfer M, et al. Among authors: haferlach t, haferlach c. Leukemia. 2013 Sep;27(9):1852-60. doi: 10.1038/leu.2013.133. Epub 2013 Apr 30. Leukemia. 2013. PMID: 23628959
AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a specific molecular mutation pattern including ASXL1 mutations in 46.8% of the patients.
Alpermann T, Haferlach C, Eder C, Nadarajah N, Meggendorfer M, Kern W, Haferlach T, Schnittger S. Alpermann T, et al. Among authors: haferlach t, haferlach c. Leuk Res. 2015 Mar;39(3):265-72. doi: 10.1016/j.leukres.2014.11.026. Epub 2014 Dec 16. Leuk Res. 2015. PMID: 25592059
399 results