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. 2023 Oct 13;37(12):2395–2403. doi: 10.1038/s41375-023-02061-1

Fig. 1. Localizations of deduced amino acid changes and co-mutational profile of IKZF1 alterations in acute myeloid leukemia.

Fig. 1

IKZF1 was mutated in 45/1606 AML patients. Schematic representation of the IKZF1 protein (A). IKZF1 has four N-terminal zinc finger (ZF) domains (blue) and two C-terminal ZF domains (green). The x-axis represents amino acid positions with specific annotations for amino acids forming the ZF domains. The hotspot mutation p.N159S was present in 42.2% of cases (n = 19). This domain and locus are highly conserved across species (B). Median variant allele frequency (VAF) for IKZF1 was 44% (C). Alterations were predominantly missense rather than truncating mutations (C). AML patients bearing mutated IKZF1 had a median of four overall mutations (C). Compared to wildtype patients, patients with altered IKZF1 harbored significantly higher rates of co-occurring alterations in RUNX1, GATA2, KRAS, KIT, SF3B1, and ETV6 while co-occurrence of NPM1, FLT3-ITD, and TET2 were rare (D). For detailed information on frequency and statistical significance of associated co-mutations, please see Table S2.