作者: Zandra C Deans , Andrew Wallace , Brendan O'Sullivan , Andrew Purvis , Suzanne Camus
DOI: 10.1136/JCLINPATH-2013-201848
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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.