Teen who Suffered from Rare Liver Cancer Joins Research Team to Study the Disease

First Posted: Feb 28, 2014 11:52 AM EST
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Eighteen-year-old Elana Smith was diagnosed with a rare form of liver cancer when she was 12, known as fibrolamellar hepatocellular carcinoma. As the disease has relatively no effective drug treatments, according to health officials, a large portion of her liver was removed.

However, six years following the diagnosis, Smith is considered cancer-free. But scientists are far from discovering all there is to know about the mysteries behind this illness, which affects only 200 adolescents each year. In order to further understand the complexity of the illness, Smith decided to study the health problem, herself.

"It's crazy that I've been able to do this," she said, via the Portland Press Herald.

Smith worked with her surgeon, Michael La Quaglia, to collect tumor samples from 15 fibrolamellar patients he had operated on. Researchers from her father's lab at the Rockefeller University, Memorial Sloan-Kettering Cancer Center and New York Genome Center worked to submit samples for genetic sequencing and other possible related studies as well.

A thorough analysis confirms that all the patients contain a genetic anomaly that's brought by a fusion of parts through two different genes. According to The Wall Street Journal, though this was not present in the normal liver tissue when removed from the same patient, it may imply that faulty fusion of the genes could be the culprit.

"This is the milestone on research in that cancer type," said Bert Vogelstein, head of the Ludwig Center for Cancer Genetics & Therapeutics at Johns Hopkins University School of Medicine in Baltimore, who wasn't involved in the study, via The Wall Street Journal. "It's the mountain everybody wants to find when they do these cancer genome sequencing studies."

However, researchers note that such genetic anomalies do not mean that it caused the cancer and more research will need to be conducted in order to determine the exact development of the disease.

More information regarding further findings of the study can be seen via the journal Science

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