A 16-year old teenager has joined a team of researchers to study her own mysterious disease to help others that may go through the same disease in the future.
Elana Simon was 12 when she was diagnosed with a mysterious, rare form of liver cancer -- fibrolamellar hepatocellular carcinoma. The disease has no effective drug treatments, and without surgery, prognosis for the patient is poor, so she had a huge part of her liver removed.
Six years after, Simon is now considered free from cancer, but, it didn't stop her from learning more about her illness, which affects 200 adolescents and young adults yearly. Equipped with a modest knowledge about complex science from her internship at a lab at Mount Sinai School of Medicine, she decided to be her own scientist.
She worked with her surgeon, Michael La Quaglia, and they were able 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 then submitted the samples for genetic sequencing and other possible related studies.
After thorough analysis, they found in all patients that the genetic anomaly is brought by a fusion of parts of two different genes. Though it wasn't present in the normal liver tissue removed from the same patients, it strongly implies that the faulty fusion of genes could be the culprit, said researchers to the Wall Street Journal.
However, finding such genetic anomaly doesn't mean that it caused the cancer. More research needs to be performed to ascertain its role in the development of the disease, said La Quaglia, chief of pediatric surgery at Memorial Sloan-Kettering and a co-author of the study to the WSJ.
Even so, since a clear link is found, the findings could pave the way to an apt diagnostic testing and treatment.
This study, which was established by the parents of Tucker Lowe Davis, who died of the disease in 2010, was supported by the Fibrolamellar Cancer Foundation of Greenwich, Conn.
Further details of this study can be read in the Feb. 28 issue of Science.
