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    Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation

    Access Status
    Fulltext not available
    Authors
    Bentel, J.
    Thomas, M.
    Rodgers, J.
    Arooj, Mahreen
    Gray, E.
    Allcock, R.
    Fermoyle, S.
    Mancera, R.
    Cannell, P.
    Parry, J.
    Date
    2017
    Type
    Journal Article
    
    Metadata
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    Citation
    Bentel, J. and Thomas, M. and Rodgers, J. and Arooj, M. and Gray, E. and Allcock, R. and Fermoyle, S. et al. 2017. Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. BMJ Case Reports.
    Source Title
    BMJ Case Reports
    DOI
    10.1136/bcr-2017-219720
    ISSN
    1757-790X
    School
    School of Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/53296
    Collection
    • Curtin Research Publications
    Abstract

    BRAF mutation testing to determine eligibility for treatment with vemurafenib was performed on archival skin lesions of a 54-year-old patient diagnosed with Erdheim-Chester disease (ECD) in 1999. Sanger sequencing of DNA extracted from a 2008 skin lesion identified two non-contiguous base substitutions in BRAF, which were shown by next-generation sequencing (NGS) to be located in the same allele. Due to its long-standing duration, molecular evolution of disease was possible; however, both Sanger and NGS of a 2000 skin lesion were unsuccessful due to the poor quality of DNA. Finally, droplet digital PCR using a probe specific for this novel mutation detected the complex BRAF mutation in both the 2000 and 2008 lesions, indicating this case to be ECD with a novel underlying BRAF p.Thr599-Val600delinsArgGlu mutation. Although well at present, molecular modelling of the mutant BRAF suggests suboptimal binding of vemurafenib and hence reduced therapeutic effectiveness.

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