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Multiplexed targeted sequencing of recurrent fusion genes in acute leukaemia

Leukemia volume 30, pages 757–760 (2016)Cite this article

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Dozens of recurrent chromosomal rearrangements have been described in acute leukaemia, where they often result in the fusion of two genes and in the expression of hybrid proteins. These genetic markers often delineate distinct clinical entities, and have been incorporated into the World Health Organization classification. Today, their evaluation at diagnosis thus provides crucial information for risk stratification, treatment decisions and residual disease evaluation.1, 2

We created a mix of 153 LD-RTPCR probes to target more than 50 recurrent fusion genes and three NPM1 mutations (Figures 1b and c). The procedure is detailed in Supplementary Methods, and representative results are provided in Supplementary Figure 1. As shown in Supplementary Figure 2A, the results not only inform about the identity of the two partner genes, but also on the localisation of the breakpoint, guiding the choice of an appropriate assay for residual disease evaluation. The analysis of serial dilutions showed that ~3.103 copies of transcripts are sufficient for the identification of the two partners (Supplementary Figure 2B).

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Figure 1
Figure 2

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Acknowledgements

We would like to thank the association ‘Tom Pousse, pousse la Moelle’, the ‘Ligue contre le Cancer (comité Seine Maritime)’ and the Institute for Research and Innovation in Biomedicine (Rouen) for their participation in this project.

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Author notes

  1. P Ruminy and V Marchand: These authors contributed equally to this work.

Authors and Affiliations

  1. Inserm U918, Centre Henri Becquerel, Institute for Research and Innovation in Biomedicine, University of Rouen, Rouen, France

    P Ruminy, V Marchand, T Larson, B Joly, D Penther, S Lepretre, S Mareschal, P-J Viailly, S Dubois, M Viennot, E Bohers, D Rizzo, P Bertrand, P Etancelin, J-M Picquenot, C Bastard, H Tilly & F Jardin

  2. Paediatric Oncology and Haematology Unit, Charles Nicolle Rouen University Hospital, Rouen, France

    N Buchbinder, C Girod, P Schneider & J-P Vannier

  3. Department of Haematology, Centre Henri Becquerel, Rouen, France

    E Lemasle, S Lepretre, V Camus, H Tilly & F Jardin

  4. Department of Pathology, Charles Nicolle Rouen University Hospital, Rouen, France

    E Angot

  5. Department of Oncology, Centre Henri Becquerel, Rouen, France

    F Clatot

  6. Department of Pathology, Centre Henri Becquerel, Rouen, France

    M Cornic & J-M Picquenot

  7. Haematology Unit, Charles Nicolle University Hospital, Rouen, France

    G Buchonnet

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  1. P Ruminy
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Corresponding author

Correspondence to P Ruminy.

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Competing interests

A patent governing the method, which is described in this manuscript has been filled (ref : FR2014/052255 CEB). The three inventors are PR, VM and FJ. The other authors declare no conflict of interest.

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Supplementary Information accompanies this paper on the Leukaemia website

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Ruminy, P., Marchand, V., Buchbinder, N. et al. Multiplexed targeted sequencing of recurrent fusion genes in acute leukaemia. Leukemia 30, 757–760 (2016). https://doi.org/10.1038/leu.2015.177

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