BRAF mutation testing with a rapid, fully integrated molecular diagnostics system.
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.
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Filip
F
Janku
Biocartis NV, 2800 Mechelen, Belgium.
Bart
B
Claes
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Helen J
HJ
Huang
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.|Sarah Cannon Research Institute at HealthONE, Denver, CO 80218, USA.
Gerald S
GS
Falchook
Biocartis NV, 2800 Mechelen, Belgium.|Cartagenia, 3001 Leuven, Belgium.
Benoit
B
Devogelaere
HistoGeneX NV, 2600 Berchem, Belgium.
Mark
M
Kockx
HistoGeneX NV, 2600 Berchem, Belgium.
Isabelle Vanden
IV
Bempt
Biocartis NV, 2800 Mechelen, Belgium.
Martin
M
Reijans
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Aung
A
Naing
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Siqing
S
Fu
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Sarina A
SA
Piha-Paul
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
David S
DS
Hong
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Veronica R
VR
Holley
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Apostolia M
AM
Tsimberidou
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Vanda M
VM
Stepanek
Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Sapna P
SP
Patel
Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
E Scott
ES
Kopetz
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Vivek
V
Subbiah
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Jennifer J
JJ
Wheler
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Ralph G
RG
Zinner
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Daniel D
DD
Karp
Molecular Diagnostics Laboratory, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Rajyalakshmi
R
Luthra
Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Sinchita
S
Roy-Chowdhuri
Biocartis NV, 2800 Mechelen, Belgium.
Erwin
E
Sablon
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Funda
F
Meric-Bernstam
Biocartis NV, 2800 Mechelen, Belgium.
Geert
G
Maertens
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.|Center for Personalized Cancer Therapy, Moores Cancer Center, The University of California San Diego, La Jolla, CA 92093, USA.
Razelle
R
Kurzrock
D004252:DNA Mutational Analysis / Q000379:methods*; D005557:Formaldehyde / Q000737:chemistry; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D016612:Paraffin Embedding; D057089:Pathology, Molecular; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D015203:Reproducibility of Results; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
D005557:Formaldehyde; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
BRAF; integrated; qPCR; rapid