Complex unusual DNMT3A molecular profile in Acute Myeloid Leukemia

We describe an Acute Myeloid Leukemia (AML) case bearing a complex unusual DNMT3A molecular profile. The diagnosis sample was investigated by nanopore long-read sequencing, and phasing analysis of DNMT3A mutations was performed. Diagnosis sample was further compared with remission and relapse samples of the same patient; modelling prediction and global methylation analysis also allowed to better characterize the effect of this complex mutational profile strongly affecting global DNA methylation and AML evolution.