Figure 2

Clonal evolution in UPN8. (A) Comparison of VAFs of mutated genes detected by whole-exome sequence analysis between ET and transformed AML cells. ZNF143^S286R, UBR4^R450H, and SMARCC2^D381E mutations were identified at the same VAF levels in ET and transformed AML cells. (B) Mutation analysis in HSC and HPCs. Mutation statuses of JAK2^V617F, TP53^R248W, ZNF143^S286R, UBR4^R450H, and SMARCC2^D381E in HSC, CMP, GMP, and MEP fractions were analyzed. (C) Single-cell mutation analysis of BM samples at CR after chemotherapy for transformed AML. CD34⁺/CD38^- cells were sorted as single cells, and we analyzed JAK2^V617F, TP53^R248W, TP53^V173L, ZNF143^S286R, UBR4^R450H, and SMARCC2^D381E mutations. The closed square and triangle indicate homozygous and heterozygous mutations, respectively.