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New technology accurately detected BRAF mutations in tissue samples
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A new molecular diagnostic prototype platform detected BRAF mutations in cancer tissue samples faster and more accurately vs. Clinical Laboratory Improvement Amendments-approved lab results, according to findings presented at the International Conference on Molecular Targets and Cancer Therapeutics.
“Even though it’s universally accepted that molecular profiling should be done in routine clinical care and used for patient decisions, what’s often the problem is actually the timeline,” researcher Filip Janku, MD, PhD, an oncologist at The University of Texas MD Anderson Cancer Center, said during a press conference. “It often takes time to get the sample from the pathology, and then processing and sequencing takes its time, making it difficult in terms of implementing these techniques into the clinical process.”
Filip Janku
Janku and colleagues found that the MDx (Idylla, Biocartis) molecular diagnostics platform has a high sensitivity of 1% and reduces the turnaround time to less than 90 minutes, with less than 2 minutes of hands-on time.
Researchers screened for BRAF mutations with the MDx platform using archival formalin-fixed paraffin-embedded tumor tissue samples from 79 patients with advanced cancers (melanoma, n=34; colorectal cancer, n=20; papillary thyroid cancer, n=6; ovarian cancer, n=4; other cancers, n=15). They compared the results obtained from MDx with those from the Clinical Laboratory Improvement Amendments (CLIA)-certified Molecular Diagnostic Laboratory (Sequenom MassARRAY).
Seventy identical tumor blocks were tested with MDx and CLIA. Of them, BRAF results were concordant in 67 (kappa=0.91; 95% CI, 0.81-1.01).
Researchers noted an additional disparity between MDx and CLIA in BRAF mutation subtype (V600K vs. V600E) in a melanoma tissue sample.
Including different tumor blocks, MDx and CLIA results were concordant in 75 of 79 samples (kappa=0.89; 95% CI, 0.79-1.00).
Thirty patients with CLIA-determined BRAF mutations were treated with BRAF/MEK inhibitors, and eight demonstrated partial response. Two of three patients with BRAF mutations determined only by CLIA lab results did not respond to treatment.
The MDx platform can be used to detect various mutations for which there are FDA-approved targeted therapies, such as KRAS and EGFR, Janku said.
“The results of the biopsy can actually be available by the time the patient leaves the clinic,” Janku said. “The platform can be operated very simply and it’s a user-friendly system which demonstrated data that exceeded our expectations.”
For more information:
Janku F. Abstract #C198. Presented at: International Conference on Molecular Targets and Cancer Therapeutics; Oct. 19-23, 2013; Boston.
Disclosure: The researchers report no relevant financial disclosures.
Perspective
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Lee J. Helman, MD
The field is evolving rapidly. The major question we’re faced with right now is how to combine targeted therapies with immunotherapy, or how to combine various targeted therapies. Clearly, the first thing is to know if the patient has a BRAF mutation, because we understand that those patients have a high likelihood of responding. We might have a better way of very quickly identifying patients who are not going to benefit and moving them on to other therapies.
We also don’t have a great way right now to predict which patients are going to respond to immunotherapy. But again, we’re in a rapidly evolving period in the treatment of melanoma, and our options are to use combined targeted therapy, with BRAF and MEK inhibitors, for example. How we would then combine that with immunotherapy will probably be tested in various clinical trials in the next year or two. It would be fascinating to answer that question over the next few years.
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