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

J Clin Pathol. 2016 May;69(5):398-402. doi: 10.1136/jclinpath-2015-203345. Epub 2015 Nov 4.

Abstract

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.

Keywords: COLORECTAL CANCER; SURGICAL PATHOLOGY; diagnostic screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis*
  • Adenocarcinoma / genetics
  • Adult
  • Aged
  • Aged, 80 and over
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Mutational Analysis / methods*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Polymerase Chain Reaction / methods*
  • Prognosis
  • Proto-Oncogene Proteins B-raf / genetics*

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf