BJH - volume 16, issue 4, july 2025
B. Decuyper MD, I. Andriessen , M. Hofmans MD, PhD, B. De Moerloose MD, PhD
SUMMARY
Paediatric acute myeloid leukaemia (pAML) and myelodysplastic syndrome (pMDS) are rare yet clinically significant haematologic malignancies, associated with poor prognosis. Recent studies have identified upstream binding transcription factor tandem duplications (UBTF-TD) as a potential novel genetic driver lesion in leukaemogenesis. UBTF encodes a nucleolar protein involved in ribosomal RNA transcription and chromatin remodelling. UBTF-TD pAML and pMDS is characterised by aberrant recruitment to HOXA/B clusters, leading to a leukaemic gene expression profile. Moreover, UBTF-TD is frequently associated with FLT3-ITD, WT1 and RAS-pathway mutations. Given its distinct molecular profile and prognostic significance, UBTF-TD is increasingly recognised as a novel subclass-defining lesion in paediatric myeloid malignancies. Further research is required to identify effective therapeutic interventions to improve patient outcomes, but Menin-inhibitors show promising results. This review consolidates current knowledge on UBTF-TD mutations, covering their molecular landscape, clinical implications and potential therapeutic considerations.
(BELG J HEMATOL 2025;16(4):152–9)
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