Tag Archives: gene sequencing

Gene Sequencing? What is it? Does it Matter? (* *YES***)

We hear about gene sequencing and personalized medicine, and yet few of us really understand what that means. All of this, despite the hype! We also hear about targeted therapy. As a minimum that should mean that doctors are targeting the tumor for destruction, but is not that easy.  As usual.

The University of North Carolina researchers have done critical reviews of clear cell kidney cancer. They questioned why there is such wide variation in the aggressiveness of clear cell RCC (ccRCC). Almost all ccRCC looks alike under the microscope, the usual “pathology” report, but tumors don’t behave the same. Some are shockingly aggressive in their growth, even the small ones.  They metastasize quickly, and break the surgeon’s “got it all” prediction.  The overall survival (OS–the longer, the better!) is wildly different, despite the similarity.

If this is the same kind of cancer, why does it behave so differently?

The obvious answer is that these tumors are not really the same biologically. That can be shown by an inside look at the tumor’s DNA and patient’s normal kidney DNA. This is what gene sequencing can do, i.e., help define what differences exist in the tumor cell. This is essential in “targeting” the treatment to the tumor. You have to see the recognize what IS the target to hit it with the right treatment.

This linked YouTube lecture below helps explain these new terms. It gives me appreciation for the challenge faced by researchers, clinicians and patients in getting proper treatment.  And nobody cares as much as we patients!

Dr. Kimryn Rathmell and colleagues at U of NC created a test which can differentiate the more aggressive form of clear cell kidney cancer from a less aggressive form.  Should one monitor a smallish tumor, monitor a patient more closely after surgery, or just assume everything is fine and dandy?  These tests help in that decision.  (PS Don’t forget that a “small” Stage 1 kidney cancer tumor can be the size of a golf ball.  “Regular” size Stage 1 tumor can be the size of a nice tomato.  Small, indeed.)

We’ve learned it isn’t just “cancer”. It’s not just “kidney cancer”. It’s not even just just “clear cell” or “papillary” or “chromophobe”! Instead it is a molecularly defined cancer which has taken up residence in one’s kidney. Different drivers, some more aggressive than others–big surprise.  Different strokes for different folks, and different targets for different testy genes in our tumors!

https://www.youtube.com/watch?v=Y9HumO20GKc A transcription can be found in “Genetic Sequencing for Dummies and Me”

 

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Filed under Genomics & Genes, RCC Basics, Your Role