What Mutations to Get Tested For?

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1/14/2013 9:43am
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On this and another forum, people talk about getting tested not only for BRAF mutations but C-Kit and RAS as well.  Maybe others.  I know that my insurance allowed me to be tested for BRAF and this was done twice using older and current techniques.  No mutation. Both tests paid for by my insurance.  I've mentioned being tested for C-Kit but my oncologist seems to duck the question.  I have an unknown primary, though it is assumed, I suppose because of likelihood rather than anything strictly scientific, that it was originally skin.  Would it benefit future treatment to know about the other two mutations listed or any others?  Is there any insurance coverage for other tests besides BRAF? I would not hesitate to pay for them out of pocket is they could tell me something significant for further treatment?

POW - (1/14/2013 - 11:51am)

I am no expert, but n-ras seems to be associated primarily with melanomas in chronically sun-damaged skin (for most of us, our skin is not "chronically sun-damaged") and c-kit seems to be associated with acral (soles of hands and feet or nail beds) and mucosal melanomas as well as chronially sun-damaged skin. Do you fit into any of these categories? 

Researchers are only beginning to look at n-ras and c-kit as potential targets for chemotherapy. There are no FDA approved treatments for tumors with these mutations, so insurance would not cover the testing. There are few, if any, clinical trials aimed at these mutations yet, either. And, of course, when they do start clinical trials, they will sequence your DNA as part of the trial. However, if you are intensely curious and have the money, it certainly wouldn't hurt to get your c-kit and your n-ras DNA sequenced. That way, if and when a trial opens up, you will know ahead of time if you would be eligible. 

I think you would be smart to keep checking the web sites of The Angeles Clinic, MD Anderson, and Moffitt Cancer Center for promising clinical trials aimed at c-kit and/or n-ras. Maybe call the trial coordinators at those places once in a while, too. Very often they will be able to tell you about trials they are planning to start a month or more before they actually list it on their web sites. Good luck!

Anonymous - (1/14/2013 - 12:07pm)

wouldn't most melanomas be from chronically sun damaged skin??

Not necessarily.  Even one sunburn earlier in live can cause the mutations.  No chronic sun damage to me nor my c-kit tumor location either!

I'm me, not a statistic. Praying to not be one for years yet.

I know a little about this, but have to say Vanderbilt tested me before Zel was on the market, for a trial, as well as before the commercially available BRAF test kits, so I got a complete 1 page report on Braf, Nras, kit, and others and all their variants for my tumor. There was a lot of back and forth over who would pay for it but they did eventually - over $2000 I think.

I saw on your profile you have an unknown primary. Do you know what kind of mel they think it is? I think it's JerryFromFauq who has a CKit mutation and has had success with Gleevec (imatinib) using it off label.

"Evaluation of several KIT mutations should also be considered in at least specific clinically defined subsets of patients. Though KIT mutations are present in only ~2% of all melanomas, acral (feet and hands) and mucosal melanomas harbor KIT mutations in 15-20% of cases. KIT mutations are sensitive to imatinib in about 25% of the cases based on limited numbers of patients."

From a recent article here - http://oncofacts.com/archives/pearls-of-wisdom-melanoma/

If you did know, you could use something like mycancergenome.org to look for trials based on any mutation.

I'd think the bigger centers would all have their own molecular diagnostics lab for genetics testing. More info:

http://forum.melanomainternational.org/mif/viewtopic.php?p=37134#p37134

I was considering an NIH trial at one point which required a specific blood antigen. I had to pay for that one.

Hope this helps, feel like I'm rambling!