Figure 4.
The landscape of CH in AA. (A) Left, When all available modalities to assess for genetic alterations are used, CH can be detected in over 70% to 80% of AA patients (pie chart). Right, Bar chart showing the relative proportions of recurrent mutations. The 2 most commonly mutated genes in AA are PIGA and HLA (blue bars); inactivating mutations in these genes are pathognomonic of immune-mediated BMF. Mutations in genes associated with MDS (red bar) are found in ∼25% to 30% of AA patients. (B) Table showing available information on the prognostic significance of recurrent genetic alterations in AA, which is discussed in "Common somatic alterations in AA" and "Evolution to post-AA secondary MDS/AML." §Based on Negoro et al.51 #Based on Yoshizato et al.37