Rearrangements of the KMT2A Gene in Acute Leukemia in Children – Determination in Whole Genome Sequencing Data and Clinical Application

Five cases of KMT2A cryptic rearrangements were discovered, which was the basis for the re-classification of patients into a high-risk group.There were also 2 cases of a combination of KMT2A rearrangements with rearrangements of other important AL genes -ABL1 and RUNX1.The found sequences of KMT2A chimeric genes were used to determine the minimum residual disease (MRD) by RT-PCR. Conclusion:The persistence of PCR-MRD showed a significant effect on event-free survival in the AML-MRD-2018 protocol (36.010.4% vs 26.412.8%,p=0.024).