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Mutation testing question

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#1 stephiericks


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Posted 28 March 2013 - 12:14 PM

Need some help understanding the mutation testing process.  We have been waiting on the results of mutation testing for my husband - his last MD Anderson results on Gleevec were very poor and Cortes is switching him to either Bosutinib or Ponatinib.  Just learned that they were unable to get any results from the testing and would try again next week.  Results seem crucial to me at this point - could someone help me understand how the lab couldn't get it to work?  They are switching him to Bosutinib in the meantime - thank you, very frustrated....

#2 Trey


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Posted 28 March 2013 - 08:51 PM

"Unable to get any results" is not very precise.  But in general, test failure can occur for several reasons including inadequate or insufficient sample, sample spoilage, improper handling, contamination, lab errors, and other reasons.  Also, "unable to get any results" could mean no kinase mutations could be found, so that would be a good thing.  Kinase mutations are only one of several causes for poor response to TKI drugs.  Often changing drugs will lead to a better result.  Sprycel, Tasigna, Ponatinib/Iclusig, Bosutinib/Bosulib all work against mutations better than Gleevec.  But it is not certain that he has a kinase mutation.  He may just have low drug uptake, or some  form of resistance to Gleevec. 

So if the test was properly done and no kinase mutations were found, then switching to any of the drugs is an option.  If the test is being re-accomplished for some reason, I suppose the Onc is waiting to see if a kinase mutation is present, and which one.  But there does not seem to be any reason to wait to switch drugs.  Ponatinib/Iclusig would overcome all kinase mutations as well as any drug, so switching to it would seem to be an easy choice. 

Here is some info about kinase mutations, but it is not easy to read:


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