Faculty Collaboration Database

BRAF mutation testing with a rapid, fully integrated molecular diagnostics system. Oncotarget 2015 Sep 29;6(29):26886-94

Date

09/04/2015

Pubmed ID

26330075

Pubmed Central ID

PMC4694960

DOI

10.18632/oncotarget.4723

Scopus ID

2-s2.0-84944463600 (requires institutional sign-in at Scopus site)   44 Citations

Abstract

Fast and accurate diagnostic systems are needed for further implementation of precision therapy of BRAF-mutant and other cancers. The novel IdyllaTMBRAF Mutation Test has high sensitivity and shorter turnaround times compared to other methods. We used Idylla to detect BRAF V600 mutations in archived formalin-fixed paraffin-embedded (FFPE) tumor samples and compared these results with those obtained using the cobas 4800 BRAF V600 Mutation Test or MiSeq deep sequencing system and with those obtained by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory employing polymerase chain reaction-based sequencing, mass spectrometric detection, or next-generation sequencing. In one set of 60 FFPE tumor samples (15 with BRAF mutations per Idylla), the Idylla and cobas results had an agreement of 97%. Idylla detected BRAF V600 mutations in two additional samples. The Idylla and MiSeq results had 100% concordance. In a separate set of 100 FFPE tumor samples (64 with BRAF mutation per Idylla), the Idylla and CLIA-certified laboratory results demonstrated an agreement of 96% even though the tests were not performed simultaneously and different FFPE blocks had to be used for 9 cases. The IdyllaTMBRAF Mutation Test produced results quickly (sample to results time was about 90 minutes with about 2 minutes of hands on time) and the closed nature of the cartridge eliminates the risk of PCR contamination. In conclusion, our observations demonstrate that the Idylla test is rapid and has high concordance with other routinely used but more complex BRAF mutation-detecting tests.

Author List

Janku F, Claes B, Huang HJ, Falchook GS, Devogelaere B, Kockx M, Bempt IV, Reijans M, Naing A, Fu S, Piha-Paul SA, Hong DS, Holley VR, Tsimberidou AM, Stepanek VM, Patel SP, Kopetz ES, Subbiah V, Wheler JJ, Zinner RG, Karp DD, Luthra R, Roy-Chowdhuri S, Sablon E, Meric-Bernstam F, Maertens G, Kurzrock R

Author

Razelle Kurzrock MD Center Associate Director, Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

DNA Mutational Analysis
Formaldehyde
High-Throughput Nucleotide Sequencing
Humans
Melanoma
Mutation
Neoplasms
Paraffin Embedding
Pathology, Molecular
Proto-Oncogene Proteins B-raf
Real-Time Polymerase Chain Reaction
Reproducibility of Results
Skin Neoplasms