Finding Clues in Genes of 'Exceptional Responders'

        Grace Silva pictured above of Dartmouth, Massachusetts was diagnosed in 2010 with anaplastic thyroid cancer following symptoms of a swollen neck and throat at the Dana-Farber Cancer Institute in Boston. Most patients die within months of finding out they have this type of cancer. Her doctor attempted to treat her with antibiotics but was not successful. Her thyroid gland was removed along with the tumor, and after chemotherapy and radiation treatments the cancer kept coming back. Dana-Farber Institute began studying a drug called everolimus in thyroid cancer due to studies of success in labs with mice. This drug was successful with Mrs. Silva, shrinking her tumors and disappearing for about a year and a half. 

       Researchers sequenced her tumor's genes, finding a mutation that made her cancer dependent on mTOR, and everolimus is able to oppress the production of that protein. Her tumors did begin to grow again and a second genetic analysis found a second mutation in the mTOR gene was allowing the cancer evade the drug and grow. Mrs. Silva is now receiving an experimental drug to take over the mutation's effect and stop cancer growth. Researchers can now just look for that mutation to help other patients because it is seen in hundred of other cancer types. 

      Cancer doctors are using 'exceptional responders' by testing them with a drug a doctor truly feels could work without really knowing if it will and in some cases this person responds positively. Studies are now being done to do this with gene sequencing. In one study at Memorial Sloan-Kettering Cancer Center a woman was treated with everolimus with bladder cancer. Her cancer was spreading rapidly and was told she had about a year to live. This drug caused her tumors to vanish. A variety of studies have been done to find these responders, which opens many doors for curing cancer.  

    This article really intrigued me, considering cancer is among a large portion of humans in the United States alone. A relative of a good friend of mine has just recently been diagnosed with liver cancer and my heart sank. I believe it is so important that research is done to help these victims and stop them from suffering. This may not be the cure for all cancer, but it is definitely a step in the right direction.

Article: http://www.nytimes.com/2014/10/09/health/in-genes-of-exceptional-responders-clues-to-fighting-disease.html?ref=science

Related Article: http://www.biomedcentral.com/1471-2482/13/S2/S44