Adil Daud, MD, on the Importance of Testing Patients with Melanoma for BRAF Mutations

Adil Daud, MD, of the UCSF Helen Diller Family Comprehensive Cancer Center discussed with CancerNetwork the use of next-generation sequencing to not only spot common BRAF mutations but find rarer mutations in patients with melanoma.

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It’s an extremely important subject, and in the past people would use the specific BRAF test and that’s what we did too. But I’d say in the last 2-3 years, most centers in the US have switched to using next-generation sequencing, which has the advantage that you can see the BRAF mutation but you can also see some of the uncommon BRAF mutations like V600K, V600D which it’s about 10% of all BRAF mutations are non-V600E which is the one that’s detected by the BRAF test. But then also you can recognize things like NRAS mutations C-KIT mutations and some of the fusions like the ROS1 fusion, ALK fusion that are rare, but are seen sometimes especially in younger people with melanoma or in melanoma that arises in the achiral extremities, those types of melanomas. Also, for uveal melanoma, next gen sequencing can spot GNAQ, GNA11 mutations, BAP1 loss, which straight forward V600E tests won’t do.

I think the downside of NGS is that it takes 2-3 weeks to get the results back and sometimes you really need to get somebody started as soon as possible. I think it’s reasonable in my opinion to start with immunotherapy, given what we’ve just discussed, while you’re waiting for your NGS results and then when you get your NGS results you could decide whether it makes sense to do target therapy or not.