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Because This Teenager Discovered the Genetic Mutation That Gave Her the Liver Cancer She Beat at 12

Elana Simon  

When I turned 12, I found out that I had a rare liver cancer called fibrolamellar hepatocellular carcinoma. I remember I couldn’t pronounce the name no matter how many times I tried and I was in the hospital bed reading it over and over again. I didn’t really have anything else to do, so I would Google it and try to understand what fibrolamellar was, but there was very little known. My doctors caught it early and were able to remove everything with one surgery, but even when it was gone it wasn’t really over. Every time I looked in the mirror, it was like, Oh, look, my stomach has a huge scar.

When I got to high school, I wanted to see if I would be interested in pursuing a career in science, so I started working at a lab in Mount Sinai. They had me look into genetic-sequencing databases, and I realized that genetic sequencing is actually perfect for studying fibrolamellar, because you don’t need to have any previous knowledge of the disease to get DNA samples and analyze sequences.

During one of my regular checkups I asked my surgeon why no one ever sequenced fibrolamellar. He said, “They just haven’t gotten to it yet, but you should.” He was the first person to offer me samples of his patients. Then my dad, who’s a biophysicist at Rockefeller University, said we could use their high-quality computers for sequencing. In general, it’s hard to get hospitals to coordinate because they always want to be the one to publish a study, but doctors who I interned for joined together to help mentor and guide me. That’s why it’s so important to get patients involved, because they don’t care who gets credit — we just want progress.

Within about a year we collected 15 fibrolamellar samples and sequenced both the tumor and closest adjacent healthy liver cell. I ended up finding a bunch of different patterns and similarities between the patients. One of the interesting things I found was that if you look at the general patterns of any two patient genomes, the tumors are more similar to each other than to the individual patient’s healthy liver cells. That makes it easier to characterize something as a fibrolamellar tumor. We also found that there was one mutation in every single patient’s tumor that wasn’t in the normal cells. The high rate of the mutation implies that that is at least a part of what’s causing the cancer, which then allows for more specific diagnostic tests and therapies. If you know what’s causing the cancer, then you can more easily find something to block it. When I was 17, this study was accepted in Science, and when I was 18, it was published with me as the co-first author.

Now I’m 19 and a sophomore at Harvard. In January, I was invited to the White House to introduce President Obama as he announced his precision-medicine initiative, which was a call to look at people’s genomes to see more exactly what a patient needs and develop treatments specific to each person. We talked before my speech and he asked me about how I was dealing with the cold in Boston, so I told him that during snow days we went sledding down the steps of the library. He loved that. And now I’m seven years cancer free.

*This original version of this article mistakenly referred to Rockefeller University as the Rockefeller Foundation.