External quality assessment of BRAF molecular analysis in melanoma

Zandra C. Deans, Andrew Wallace, Brendan O'Sullivan, Andrew Purvis, Suzanne Camus, Jennifer A. Fairley, D. Gonzalez

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


The availability of BRAF inhibitors has given metastatic melanoma patients an effective new treatment choice and molecular testing to determine the presence or absence of a BRAF codon 600 mutation is pivotal in the clinical management of these patients. This molecular test must be performed accurately and appropriately to ensure that the patient receives the most suitable treatment in a timely manner. Laboratories have introduced such testing; however, some experience low sample throughput making it critical that an external quality assurance programme is available to help promote a high standard of testing, reporting and provide an educational aspect for BRAF molecular testing. Laboratories took part in three rounds of external quality assessment (EQA) during a 12-month period giving participants a measure of the accuracy of genotyping, clinical interpretation of the result and experience in testing a range of different samples. Formalin fixed paraffin embedded tissue sections from malignant melanoma patients were distributed to participants for BRAF molecular testing. The standard of testing was generally high but distribution of a mutation other than the most common, p.(Val600Glu), highlighted concerns with detection or reporting of the presence of rarer mutations. The main issues raised in the interpretation of the results were the importance of clear unambiguous interpretation of the result tailored to the patient and the understanding that the treatment is different from that given to other stratified medicine programmes. The variability in reporting and wide range of methodologies used indicate a continuing need for EQA in this field.
Original languageEnglish
Pages (from-to)120-124
Number of pages5
JournalJournal of Clinical Pathology
Issue number2
Early online date04 Oct 2013
Publication statusPublished - Feb 2014


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