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SNaPshot of Gene Mutations Guides Therapy
Hello. I'm David Kerr. I'm Professor of Cancer Medicine at the University of Oxford and Past President of the European Society of Medical Oncology. What I would like to discuss today is a very interesting paper that was published recently in the Annals of Oncology by a group from Massachusetts General Hospital in Boston, led by Dr. Sequist.
It is a fascinating insight into where we are going next with personalized medicine in cancer. They introduced a new technology called SNaPshot. Basically, it's a broad-based multiplexing technique that allows identification of over 50 mutations from 14 prespecified genetic loci. They applied this new technology to non-small cell lung cancer. The turnaround time for the assays is about 2-3 weeks, so this can be used in real time to identify mutations and then proceed with the relevant treatments.
Of the 550 or so patients who were examined, gene mutations or rearrangements were found in the loci that they were investigating in over 51% of patients. The commonest were mutant KRAS, found in 24% of patients, followed by mutations in the epidermal growth factor receptor, which was around 13%. Next was ALK at 5%, then PI 3-kinase at 3%-4%, followed by BRAF at 2%, and then HER2. In total, about 51% of non-small cell lung cancer patients carried these mutations.
This takes us down 2 interesting avenues. The first is that some of these mutations may be prognostic, so they may identify a subgroup of patients with more aggressive disease. It's always important to have data available when discussing prognosis. We would say that an informed patient is a happy patient.
Second, the obvious one is, can we match these mutations to potential new lines of treatment? [Translocations involving] ALK are in 5% of non-small cell lung cancer patients in this study. We have crizotinib, a new and highly potent and specific ALK inhibitor, which has been licensed for years for the treatment of lung cancer patients who carry the gene rearrangement, the fusion protein. So here we have a means of identifying patients who would benefit most from that drug.
So you can imagine how, at the beginning of a patient's journey, by using a technology such as SNaPshot or some other next-generation sequencing technique, patients with key mutations can be identified who may at some stage in the natural history of their disease be candidates for particular types of drug. I think it is a fascinating study.
I think it is painting the way ahead, as we get near testing genotyping and other technology advances, which are exponential leaps, to...keep oncologists at the head. I have said before that we are the standard bearers of personalized medicine. There is no doubt that as we keep apace of the technology, that will continue to be the case.
A word of caution: When we find a single point mutation or rearrangement, we always need to think of context. Could this single gene be the true phenotypic driver of that particular cancer? This has yet to be explored in many more studies, but I think it is an exciting innovation. They really have a nice study, and I think the group from Mass General should be congratulated for painting the way ahead.
As always, thanks for listening. I would be happy to answer or take any questions that you choose to pose online. Thank you.