ASXL1 exon 12 mutations in primary CN-AML patients 60 years of age or older. (A) Localization of sequence variations within ASXL1 exon 12 found among 234 older CN-AML patients. Each arrow represents one of the nonsynonymous changes, except for known SNPs, which are not displayed. Top part of the panel: nonsense and frame shift mutations leading to truncation of the protein-coding sequence (indicated by red arrows). All these alterations were considered pathogenic mutations for the analysis of clinical outcomes. One patient had both a nonsense and a frame shift mutation. Bottom part: missense variations that alter single amino acids (indicated by black arrows). Patients who only had such missense variations were excluded from analyses of clinical correlations and outcomes. Known functional domains in ASXL1 exon 12 are designated by the shaded areas. NR indicates the RAR-binding nuclear receptor domain; and PHD, the plant homeodomain. (B) Relationship between ASXL1 mutations and other common gene mutations in 38 older CN-AML patients. Each column represents 1 patient. The topmost row indicates whether a patient had c.1934dupG (red) or another ASXL1 mutation (blue). The following rows represent 10 different types of mutations in 8 different genes that were found together with mutated ASXL1: purple represents the presence of the mutation; white, absence of the mutation; and gray fields, missing data. For CEBPA-mut patients, “s” indicates single and “d” double (biallelic) CEBPA mutations. The bottom row displays the ELN genetic category for each patient²⁷ : green represents ELN Favorable; and yellow, ELN Intermediate-I.