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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599-Val600delinsArgGlu mutation
BMJ Case Reports, Volume 2017, Article bcr-2017-219720, Year 2017
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Description
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. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved.
Authors & Co-Authors
Arooj, Mahreen
Australia, Perth
Curtin University
Gray, Elin Solomonovna
Australia, Perth
Edith Cowan University
Allcock, Richard James Nigel
Australia, Perth
Pathwest Laboratory Medicine wa
Australia, Perth
The University of Western Australia
Mancera, Ricardo L.
Australia, Perth
Curtin University
Parry, Jeremy
Australia, Perth
Pathwest Laboratory Medicine wa
Statistics
Citations: 6
Authors: 5
Affiliations: 4
Identifiers
Doi:
10.1136/bcr-2017-219720
ISSN:
1757790X
Research Areas
Cancer
Genetics And Genomics
Health System And Policy