Dr Masayuki Umeda speaks to ecancer about his presentation titled “Integrated genomic analysis identifies UBTF tandem duplications as a subtype-defining lesion in paediatric acute myeloid leukaemia” at ASH 2021 annual meeting.

He initially, explains the background and aims of the study. Dr Umeda says that in this study, they investigated 136 patients with relapsed AML using RNA and whole-genome sequencing and found enrichment of genes with poor prognosis such as NUP98 rearrangement or FLT3-ITD. Among them, they also found 12 UBTF mutations in the relapse cohort. It was surprising because only 10 UBTF mutations have been reported in the literature so far. Dr Umeda then discusses the results of the study.

He concludes by talking about the importance of this study which is that now researchers can identify the driver mutations in AMLs otherwise regarded as ‘without known driver’.