Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia

Abstract

UBTF tandem duplications are recurrent in adult and paediatric acute myeloid leukaemia and have been reported to be associated with a poor prognosis. Co‐mutations in WT1 and FLT3 are common while morphological dysplasia is frequent. The role of UBTF‐TDs in leukemogenesis is yet to be elucidated; however they have been proposed as early initiating events, making them attractive for assessment of MRD and a potential therapeutic target. We present two cases where the UBTF‐TD was observed in remission and discuss the implications of these findings in the clinicobiological understanding of this emerging entity.

<i>UBTF</i> tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis

“…These findings are consistent with the recognition of UBTF -TD alterations in nearly a third of pediatric patients with high-grade MDS 24 and recent studies have also identified the persistence of UBTF -TD in remission samples in patients with UBTF -TD myeloid neoplasms. 22 These collective data support the conclusion that UBTF-TD alterations can lead to both MDS and AML, and that UBTF-TD myeloid neoplasms should be recognized as a separate entity.…”

“…Myelodysplasia-related chromosomal changes or myelodysplasia-related mutations were overall rare, suggesting that UBTF -TD itself contributes to dysplastic features ( Online Supplementary Table S4 ). Considering these overall features and other recent publications, 5 , 8 , 9 , 22 , 23 the majority of UBTF -TD AML (83/89, 93.3%) are best classified as “Acute myeloid leukemia with other defined genetic alterations” in the current WHO classification 20 ( Online Supplementary Table S4 ).…”