Article
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation.
BMJ case reports - 28 Apr 2017
Bentel Jacqueline May, Thomas Marc Andrew, Rodgers Jamie John, Arooj Mahreen, Gray Elin, Allcock Richard, Fermoyle Soraya, Mancera Ricardo Luis, Cannell Paul, Parry Jeremy
Abstract excerpt
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...
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