Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia

Sean Harrop; Phillip C Nguyen; David Byrne; Clarissa Wilson; Georgina L Ryland; Tamia Nguyen; Mary Ann Anderson; Seong Lin Khaw; Michelle Martin; Ing Soo Tiong; Elaine Sanij; Piers Blombery

doi:10.1002/jha2.808

Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia

EJHaem. 2023 Oct 19;4(4):1105-1109. doi: 10.1002/jha2.808. eCollection 2023 Nov.

Authors

Sean Harrop¹, Phillip C Nguyen¹, David Byrne¹, Clarissa Wilson¹, Georgina L Ryland^{1

2}, Tamia Nguyen¹, Mary Ann Anderson¹, Seong Lin Khaw^{3

4}, Michelle Martin⁵, Ing Soo Tiong¹, Elaine Sanij^{1

6

7

2

8}, Piers Blombery^{1

2}

Affiliations

¹ Peter MacCallum Cancer Centre Melbourne Victoria Australia.
² Sir Peter MacCallum Department of Oncology University of Melbourne Parkville Victoria Australia.
³ Royal Children's Hospital Melbourne Victoria Australia.
⁴ Murdoch Children's Research Institute Melbourne Victoria Australia.
⁵ Monash Children's Hospital Melbourne Victoria Australia.
⁶ St Vincent's Institute of Medical Research Fitzroy Victoria Australia.
⁷ Department of Medicine St Vincent's Hospital University of Melbourne Melbourne Victoria Australia.
⁸ Department of Biochemistry and Molecular Biology Monash University Clayton Victoria Australia.

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.

Keywords: acute leukaemia; cancer genetics; molecular.