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External quality assessment of BRAF molecular analysis in melanoma
  1. Zandra C Deans1,
  2. Andrew Wallace2,
  3. Brendan O'Sullivan3,
  4. Andrew Purvis1,
  5. Suzanne Camus4,
  6. Jennifer A Fairley4,
  7. David Gonzalez5
  1. 1Department of Laboratory Medicine, UK NEQAS for Molecular Genetics, The Royal Infirmary of Edinburgh, Edinburgh, UK
  2. 2Department of Genetic Medicine, Saint Mary's Hospital, Manchester, UK
  3. 3Department of Cellular Pathology, Queen Elizabeth Hospital, Birmingham, UK
  4. 4Department of Laboratory Medicine, Molecular Pathology, The Royal Infirmary of Edinburgh, Edinburgh, UK
  5. 5Molecular Diagnostics, The Centre for Molecular Pathology, The Royal Marsden NHS Foundation Trust, Surrey, UK
  1. Correspondence to Dr Zandra Deans, Department of Laboratory Medicine, UK NEQAS for Molecular Genetics, The Royal Infirmary of Edinburgh, Little France Crescent, Edinburgh EH16 4SA, UK; Sandi.Deans{at}ed.ac.uk

Abstract

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.

  • Melanoma
  • Molecular Pathology
  • Quality Assurance

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