[Cancer]
[cancer] In which we discover that I am in fact a mutant
My oncologist recently ordered a followup genetic assessment on some of my
existing tumor tissue. We did not discover any recently identified clinically significant mutations in my tumor tissue, but a specific rare mutation of unknown clinical significance was found. Specifically, the KRAS A146V mutation. As my oncologist said:
[I]t is unclear how or if this affects therapy. We were really looking for any other targetable mutations as listed and those were negative. We should stay the course.
More detail, per the pathology report, for those interested:
Gene Mutation Significance
KRAS A146V Only ~4% of KRAS mutations affect codon 146. Among 6 reported cases of colorectal cancer with mutations at this codon, none responded to treatment with an anti-EGFR antibody. A pre-clinical study of cancer cell lines harboring a similar mutation (A146T) showed that they were sensitive to a MEK inhibitor and resistant to an EGFR inhibitor. However, KRAS A146V was not evaluated in that study.
They tested a whole ton of gene complexes, which are just a bunch of alphanumeric soup to me. I will note the pathology report commented: “The screening consists of a multiplexed panel of 496 assays that can detect up to 643 different mutations known to occur in the genes listed above.”
Living in the future is weird. Being this kind of sick in the future is weirder.
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Posted: 6:23 am Thu December 06 2012 |
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Comments
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This kind of cancer research is the most exciting and promising yet. Targeting tumor biology instead of type of cancer by organ affected will, I think (hope), revolutionize cancer treatment and survivorship. Still, being one-in-a-million can really suck. It would be nice if you were one of the Lotto-winning one-in-a-million types instead. It is more than a little alarming to have a doc gaze upon you with scientific fascination.