Cancers, Vol. 12, Pages 2815: DUX Hunting —Clinical Features and Diagnostic Challenges Associated with DUX4-Rearranged Leukaemia
Cancers, Vol. 12, Pages 2815: DUX Hunting—Clinical Features and Diagnostic Challenges Associated with DUX4-Rearranged Leukaemia
Cancers doi: 10.3390/cancers12102815
Authors:
Jacqueline A. Rehn
Matthew J. O'Connor
Deborah L. White
David T. Yeung
DUX4-rearrangement (DUX4r) is a recently discovered recurrent genomic lesion reported in 4–7% of childhood B cell acute lymphoblastic leukaemia (B-ALL) cases. This subtype has favourable outcomes, especially in children and adolescents treated with intensive chemotherapy. The fusion most commonly links the hypervariable IGH gene to DUX4 a gene located within the D4Z4 macrosatellite repeat on chromosome 4, with a homologous polymorphic repeat on chromosome 10. DUX4r is cryptic to most standard diagnostic techniques, and difficult to identify even with next generation sequencing assays. This review summarises the clinical features and molecular genetics of DUX4r B-ALL and proposes prospective new diagnostic methods.
Source: Cancers - Category: Cancer & Oncology Authors: Jacqueline A. Rehn Matthew J. O ' Connor Deborah L. White David T. Yeung Tags: Review Source Type: research
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