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dc.contributor.authorBentel, J.
dc.contributor.authorThomas, M.
dc.contributor.authorRodgers, J.
dc.contributor.authorArooj, Mahreen
dc.contributor.authorGray, E.
dc.contributor.authorAllcock, R.
dc.contributor.authorFermoyle, S.
dc.contributor.authorMancera, R.
dc.contributor.authorCannell, P.
dc.contributor.authorParry, J.
dc.date.accessioned2017-06-23T02:59:26Z
dc.date.available2017-06-23T02:59:26Z
dc.date.created2017-06-19T03:39:28Z
dc.date.issued2017
dc.identifier.citationBentel, 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.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/53296
dc.identifier.doi10.1136/bcr-2017-219720
dc.description.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.

dc.publisherBritish Medical Journal Publishing Group
dc.titleErdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation
dc.typeJournal Article
dcterms.source.volume2017
dcterms.source.issn1757-790X
dcterms.source.titleBMJ Case Reports
curtin.departmentSchool of Biomedical Sciences
curtin.accessStatusFulltext not available


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