Saturday, July 27, 2013

Why did John get brain cancer? The answer is Lynch Syndrome

We were puzzled for a couple of months after we received and understood John's diagnosis of glioblastoma multiforme aka GBM. Everything about this form of cancer would suggest that in no way should a healthy 22 year old be susceptible to it. This is a disease that presents itself in a vanishingly small percentage of the population and almost always in patients in their fifties or sixties.

It was only this past February, when meeting with John's radiation oncologist  Dr. Peddada, that we gained some understanding. Dr. Peddada, in the course of reviewing our family medical history, homed in on Melanie's paternal side. The Satkowskis have an agonizing history of early onset cancer, primarily but not limited to, colon cancer. As Dr. Peddada took note of the fact that Melanie's father, uncle and all three of her aunts all had early onset colon cancer, with the aunts additionally suffering from ovarian, uterine and, in one aunt,  brain cancer he came to the conclusion that the Satkowskis were subject to the genetic mutation known as Lynch Syndrome.  A very simple test on John that was then run on Melanie confirmed his supposition.

A good explanation for what Lynch Syndrome is can be found at What is Lynch Syndrome from the NIH

Another good resource for Lynch info is at the UCSF site KinTalk

The impact of the knowledge provided by Dr. Peddada, and subsequently by the Lynch Syndrome team at UCSF, is quite profound, both on our immediate family and on the Satkowski's.  However, with this knowledge members of the family can understand if they are exposed to this mutation and take the important step of screening for the various Lynch cancers. There is some consolation in recognizing that John's diagnosis has provided a chance for other members of his family to anticipate and deal with these cancers in a proactive way, thus enhancing their lives.

1 comment:

  1. We encourage anyone who has a family history of cancer, to please speak to your family physician regarding this and ask if the condition could be inherited. To learn more about Lynch syndrome, please visit www.lynchcancers.com

    P.S. We love Invidia!

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