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mutation?


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#1 Marnie

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Posted 21 January 2011 - 05:54 PM

Finally got a copy of the mutation test results, and darned if I can figure them out.  Doc said there were no mutations found, but one of the papers reads as follows:  "There is a new mutation 866>C (V289A) detected by plasma-based test but not by cell-based test.  Please submit another specimen for confirm if indicated.  The clinical significance of this mutation is unknown at this time."   Another paper reads, "There is a 35-nucleotide insertion between exon 8 and exon 9 which may represent alternative splicing."

Should I be freaking out at this?

So far so good on Sprycel (half dose), but of course, no tests yet.  Had my first CBC since starting, and both red and white counts were abnormal, but nothing way out of whack.  Will draw for PCR in a couple of weeks.  What should I be asking the doc when I see him next?  The blood for the mutation tests sat around for 2 weeks before the tests were done.

Marnie



#2 Trey

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Posted 21 January 2011 - 09:40 PM

These are what might be called "low resistence" items which should be easily overcome by either Sprycel or Tasigna.  The 35 nucleotide insertion is somewhat common, and may even be caused by the TKI therapy itself.  The kinase mutation V289A (if you even have it) should be easily overcome by Sprycel or Tasigna.

http://www.questdiag...tml&labCode=SJC






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