CNL of GATA2 or imbalanced GATA2 expression in atypical 3q26 AML. (A) GATA2 expression (CPM, RNA-seq) determined in inv(3)/t(3;3) (n = 11), in atypical 3q26 (n = 26) and non-3q26-rearranged AML (n = 111). Differences were not statistically significant (adjusted P < .05). Red dot represents the mean and the red bar the standard deviation. (B) Allele-specific analysis using DNA-seq and RNA-seq data showed significant skewed expression of GATA2 to 1 allele in 5 cases. In #HF-20, read depth was too low for a significance call. Asterisk (*) indicates significant differential expression between alleles (P < .05, χ² test). (C) SNP-array data presented at chromosomal locus 3q21.3, showing CNLs in the GATA2 locus, resulting in loss (red) of the GATA2 gene or its enhancer (located between GATA2 and RPN1).