DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia
<i>DUX4</i>-rearrangement (<i>DUX4r</i>) 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 che...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-09-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/12/10/2815 |
| _version_ | 1797552163779510272 |
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| author | Jacqueline A. Rehn Matthew J. O'Connor Deborah L. White David T. Yeung |
| author_facet | Jacqueline A. Rehn Matthew J. O'Connor Deborah L. White David T. Yeung |
| author_sort | Jacqueline A. Rehn |
| collection | DOAJ |
| description | <i>DUX4</i>-rearrangement (<i>DUX4r</i>) 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 <i>IGH</i> gene to <i>DUX4</i> a gene located within the D4Z4 macrosatellite repeat on chromosome 4, with a homologous polymorphic repeat on chromosome 10. <i>DUX4r</i> 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 <i>DUX4</i>r B-ALL and proposes prospective new diagnostic methods. |
| first_indexed | 2024-03-10T15:56:59Z |
| format | Article |
| id | doaj.art-996ab01e5bd749129d8c3301397c35f4 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-10T15:56:59Z |
| publishDate | 2020-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-996ab01e5bd749129d8c3301397c35f42023-11-20T15:37:06ZengMDPI AGCancers2072-66942020-09-011210281510.3390/cancers12102815DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged LeukaemiaJacqueline A. Rehn0Matthew J. O'Connor1Deborah L. White2David T. Yeung3Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA 5000, AustraliaCancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA 5000, AustraliaCancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA 5000, AustraliaCancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA 5000, Australia<i>DUX4</i>-rearrangement (<i>DUX4r</i>) 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 <i>IGH</i> gene to <i>DUX4</i> a gene located within the D4Z4 macrosatellite repeat on chromosome 4, with a homologous polymorphic repeat on chromosome 10. <i>DUX4r</i> 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 <i>DUX4</i>r B-ALL and proposes prospective new diagnostic methods.https://www.mdpi.com/2072-6694/12/10/2815acute lymphoblastic leukaemia<i>DUX4</i><i>ERG</i>molecular subtype |
| spellingShingle | Jacqueline A. Rehn Matthew J. O'Connor Deborah L. White David T. Yeung DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia Cancers acute lymphoblastic leukaemia <i>DUX4</i> <i>ERG</i> molecular subtype |
| title | DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia |
| title_full | DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia |
| title_fullStr | DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia |
| title_full_unstemmed | DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia |
| title_short | DUX Hunting—Clinical Features and Diagnostic Challenges Associated with <i>DUX4</i>-Rearranged Leukaemia |
| title_sort | dux hunting clinical features and diagnostic challenges associated with i dux4 i rearranged leukaemia |
| topic | acute lymphoblastic leukaemia <i>DUX4</i> <i>ERG</i> molecular subtype |
| url | https://www.mdpi.com/2072-6694/12/10/2815 |
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