Please use this identifier to cite or link to this item: https://dora.health.qld.gov.au/qldresearchjspui/handle/1/3636
Title: Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions
Authors: Zuna, J.
Trahair, T. N.
Sutton, R.
Venn, N. C.
Huang, L.
Hovorková, L.
Muskovic, W.
Wong, M.
Law, T.
Heatley, S. L.
Khaw, S. L.
Revesz, T.
Dalla Pozza, L.
Shaw, P. J.
Fraser, C.
Moore, Andrew 
Cross, S.
Bendak, K.
Norris, M. D.
Henderson, M. J.
White, D. L.
Cowley, M. J.
Issue Date: 2022
Source: , 2022
Journal: British Journal of Cancer
Abstract: Background: ABL-class fusions including NUP214-ABL1 and EBF1-PDGFRB occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to BCR-ABL-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and IKZF1-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers. Methods: Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and BCR-ABL1. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines. Results: ABL-class patients had 46% 5year event-free survival and 79% 5year overall survival. All had sensitive fusion tests giving high concordance between Ig/TCR and ABL-class fusion results (21 patients, n = 257 samples, r2 = 0.9786, P < 0.0001) and Ig/TCR and IKZF1-deletion results (9 patients, n = 143 samples, r2 = 0.9661, P < 0.0001). In contrast, in BCR-ABL1 patients, Ig/TCR and BCR-ABL1 tests were discordant in 32% (40 patients, n = 346 samples, r2 = 0.4703, P < 0.0001) and IKZF1-deletion results were closer to Ig/TCR (25 patients, n = 176, r2 = 0.8631, P < 0.0001). Conclusions: MRD monitoring based on patient-specific assays detecting gene fusions or recurrent assays for IKZF1-deletions is feasible and provides good alternatives to Ig/TCR tests to monitor MRD in ABL-class ALL.L20175698782022-06-10
DOI: 10.1038/s41416-022-01806-6
Resources: https://www.embase.com/search/results?subaction=viewrecord&id=L2017569878&from=exporthttp://dx.doi.org/10.1038/s41416-022-01806-6 |
Keywords: immunoglobulin;acute lymphoblastic leukemiaadult;article;bone marrow;cancer patient;cancer recurrence;cancer survival;controlled study;event free survival;female;gene deletion;gene fusion;genetic marker;high throughput sequencing;human;human tissue;major clinical study;male;minimal residual disease;overall survival;practice guideline;quantitative analysis;real time polymerase chain reaction;remission;Abelson kinase;BCR ABL protein;endogenous compound;Ikaros transcription factor;T lymphocyte receptor
Type: Article
Appears in Sites:Children's Health Queensland Publications
Queensland Health Publications

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