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

Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia

Sean Harrop  1 , Phillip C Nguyen  1 , David Byrne  1 , Clarissa Wilson  1 , Georgina L Ryland  1   2 , Tamia Nguyen  1 , Mary Ann Anderson  1 , Seong Lin Khaw  3   4 , Michelle Martin  5 , Ing Soo Tiong  1 , Elaine Sanij  1   6   7   2   8 , Piers Blombery  1   2
Affiliations

Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia

Sean Harrop et al. EJHaem. .

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.

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Conflict of interest statement

The authors have no conflict of interest to disclose.

Figures

FIGURE 1
FIGURE 1
(A) Assessment of UBTF variant allele frequency at key clinical timepoints in patient one. VAF, variant allele frequency; CR1, first complete remission; CR2, second complete remission; MFC, multiparametric flow cytometry. (B) Assessment of UBTF variant allele frequency at key clinical timepoints in patient two.
See this image and copyright information in PMC

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