Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation
dc.contributor.author | Bentel, J. | |
dc.contributor.author | Thomas, M. | |
dc.contributor.author | Rodgers, J. | |
dc.contributor.author | Arooj, Mahreen | |
dc.contributor.author | Gray, E. | |
dc.contributor.author | Allcock, R. | |
dc.contributor.author | Fermoyle, S. | |
dc.contributor.author | Mancera, R. | |
dc.contributor.author | Cannell, P. | |
dc.contributor.author | Parry, J. | |
dc.date.accessioned | 2017-06-23T02:59:26Z | |
dc.date.available | 2017-06-23T02:59:26Z | |
dc.date.created | 2017-06-19T03:39:28Z | |
dc.date.issued | 2017 | |
dc.identifier.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. | |
dc.identifier.uri | http://hdl.handle.net/20.500.11937/53296 | |
dc.identifier.doi | 10.1136/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.publisher | British Medical Journal Publishing Group | |
dc.title | Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation | |
dc.type | Journal Article | |
dcterms.source.volume | 2017 | |
dcterms.source.issn | 1757-790X | |
dcterms.source.title | BMJ Case Reports | |
curtin.department | School of Biomedical Sciences | |
curtin.accessStatus | Fulltext not available |
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