Epigenetics profiling for minimal residual disease in paediatric acute myeloid leukaemia

Next-generation sequencing (NGS) has been used for adult acute myeloid leukaemia (AML) diagnosis with some success using the Illumina TruSight Myeloid Sequencing Panel (Illumina) which detects mutations in 54 genes commonly found in patients with hematologic cancers. Unfortunately, paediatric AML has one of the lowest rates of mutation among molecularly well characterized cancers, with less than 1 somatic, protein-coding change per mega base in most cases, leading to many false negatives with the above described method. Therefore, there is a need to develop more widely applicable molecular or genomic-based assay for paediatric AML. Aberrant DNA methylation patterns are a characteristic feature of AML. Several studies have evaluated AML genome-wide methylation. Each of these DNA methylation-defined AML subtypes displayed a unique epigenetic signature when compared with the normal bone marrow CD34+ cells. Epimutations, unlike classical gene mutations, are not due to changes in DNA sequence but in the methylation signatures. However, just like normal mutations these epimutations can be used in MRD diagnosis for treatment and stratification purposes. Furthermore, epimutation profiling