Automated PCR detection of BRAF mutations in colorectal adenocarcinoma: a diagnostic test accuracy study

作者：Colling Richard^*; Wang Lai Mun; Soilleux Elizabeth

来源：Journal of Clinical Pathology, 2016, 69(5): 398-402.

DOI：10.1136/jclinpath-2015-203345

Background Testing for BRAF mutations in colorectal carcinoma (CRC) is important in the screening pathway for Lynch syndrome and is of prognostic value to guide management. This is a diagnostic accuracy study of the Idylla system, a novel and automated alternative PCR system.
Methods 100 consecutive formalin-fixed, paraffin-embedded CRC resection cases were tested for BRAF mutations using the Idylla automated platform and compared with standard (Cobas) PCR.
Results The sensitivity of the Idylla BRAF test was 100% and the specificity was 96%. Only one discordant Idylla positive/standard PCR negative result occurred and on Droplet Digital PCR demonstrated a mutation not identified by traditional PCR in this case.
Conclusion This study has validated the Idylla system for BRAF testing in CRC and demonstrated a possibly greater sensitivity, in addition to cost effectiveness and shorter turnaround time, when compared with standard PCR.

• 出版日期2016-5