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Minimal Residual Disease and IKZF1 As Predictors of Relapse, and Increased Treatment Related Mortality in Down Syndrome Acute Lymphoblastic Leukemia: A Unique and Large International Matched Case-Control Study

Lookup NU author(s): Professor Anthony MoormanORCiD, Dr Amir EnshaeiORCiD


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INTRODUCTION Down syndrome patients with acute lymphoblastic leukemia (DS ALL) are less likely to have a favorable (cyto)genetic subtype and are at higher risk of relapse and treatment-related mortality (TRM) than non-DS ALL (Buitenkamp et al., Blood 2014). At present, the independent predictive value of minimal residual disease (MRD) is unclear and may be biased by an unequal distribution of (cyto)genetic risk groups among DS ALL and non-DS ALL patients. This study was aimed to decipher the prognostic implications of MRD and IKZF1 deletions and the frequency of TRM in a matched cohort of DS ALL cases and non-DS ALL controls.CONCLUSION The MRD levels did not differ between DS ALL and non-DS ALL patients when matched for (cyto)genetics and other risk factors. In accordance, the overall relapse rate of DS ALL patients did not differ from that of matched non-DS ALL patients. Similar to non-DS ALL, IKZF1 deletion is an adverse risk factor for DS-ALL, indicating the need for treatment aimed at reducing the high relapse risk. DS ALL patients suffer more frequently from death in induction and from treatment while in remission, which jeopardizes treatment intensification. Therefore, the efficacy of targeted, less toxic therapies such as immunotherapies should be assessed in DS ALL.

Publication metadata

Author(s): Michels N, Boer JM, Lopez-Yurda M, De Groot-Kruseman HA, van der Velden V, Moorman AV, Enshaei A, Vora A, Sutton R, Trahair T, Dalla-Pozza L, Pieters R, Zwaan MC, Den Boer ML

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 61st ASH Annual Meeting

Year of Conference: 2019

Pages: 827-827

Online publication date: 13/11/2019

Acceptance date: 12/11/2019

Publisher: ASH Publications


DOI: 10.1182/blood-2019-124290