External quality assessment of BRAF molecular analysis in melanoma

作者: Zandra C Deans , Andrew Wallace , Brendan O'Sullivan , Andrew Purvis , Suzanne Camus

DOI: 10.1136/JCLINPATH-2013-201848

关键词:

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

参考文章(6)
Leopold Eckhart, Jürgen Bach, Jozef Ban, Erwin Tschachler, Melanin binds reversibly to thermostable DNA polymerase and inhibits its activity. Biochemical and Biophysical Research Communications. ,vol. 271, pp. 726- 730 ,(2000) , 10.1006/BBRC.2000.2716
Zandra C Deans, Neil Bilbe, Brendan O'Sullivan, Lazarus P Lazarou, David Gonzalez de Castro, Suzanne Parry, Andrew Dodson, Philippe Taniere, Caroline Clark, Rachel Butler, Improvement in the quality of molecular analysis of EGFR in non-small-cell lung cancer detected by three rounds of external quality assessment Journal of Clinical Pathology. ,vol. 66, pp. 319- 325 ,(2013) , 10.1136/JCLINPATH-2012-201227
Zandra C. Deans, Justyna Tull, Gemma Beighton, Stephen Abbs, David O. Robinson, Rachel Butler, Molecular Genetics External Quality Assessment Pilot Scheme for KRAS Analysis in Metastatic Colorectal Cancer Genetic Testing and Molecular Biomarkers. ,vol. 15, pp. 777- 783 ,(2011) , 10.1089/GTMB.2010.0239
Paolo Ascierto, James Larkin, Reinhard Dummer, Claus Garbe, Alessandro Testori, Michele Maio, David Hogg, Paul Lorigan, Celeste Lebbe, Thomas Jouary, Dirk Schadendorf, Antoni Ribas, Steven J. O'Day, Jeffrey A. Sosman, John M. Kirkwood, Alexander M.M. Eggermont, Brigitte Dreno, Keith Nolop, Jiang Li, Betty Nelson, Jeannie Hou, Richard J. Lee, Keith T. Flaherty, Grant A. McArthur, Paul B. Chapman, Axel Hauschild, Caroline Robert, John B. Haanen, Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation The New England Journal of Medicine. ,vol. 364, pp. 2507- 2516 ,(2011) , 10.1056/NEJMOA1103782
Keith T. Flaherty, Jeffery R. Infante, Adil Daud, Rene Gonzalez, Richard F. Kefford, Jeffrey Sosman, Omid Hamid, Lynn Schuchter, Jonathan Cebon, Nageatte Ibrahim, Ragini Kudchadkar, Howard A. Burris, Gerald Falchook, Alain Algazi, Karl Lewis, Georgina V. Long, Igor Puzanov, Peter Lebowitz, Ajay Singh, Shonda Little, Peng Sun, Alicia Allred, Daniele Ouellet, Kevin B. Kim, Kiran Patel, Jeffrey Weber, Combined BRAF and MEK Inhibition in Melanoma with BRAF V600 Mutations The New England Journal of Medicine. ,vol. 367, pp. 1694- 1703 ,(2012) , 10.1056/NEJMOA1210093
Newton A C S Wong, Zandra C Deans, Simon C Ramsden, The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation Journal of Clinical Pathology. ,vol. 65, pp. 786- 790 ,(2012) , 10.1136/JCLINPATH-2012-200851