Identification of Two DNMT3A Mutations Compromising Protein Stability and Methylation Capacity in Acute Myeloid Leukemia

Figure 1

Sanger sequencing of the DNMT3A single-nucleotide variant identified in AML#1 and analysis of clonal evolution based on NGS data. (a) AML#1 showed a single-nucleotide variant of DNMT3A at exon 20 causing a premature STOP codon (c.2385G > A; p.Trp795; NM_022552.4). (b) Variant allele frequency (VAF) changes of the detected mutations at diagnosis and follow-up (after 4 courses of guadecitabine therapy), showing expansion of the DNMT3A-mutated clone.

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