18-year-old girl helps scientists study her own rare cancer, discovers a gene flaw
An 18-year-old teenager helped scientists study her own rare type of cancer, and together they discovered a gene flaw possibly involved in the disease's growth.
Elana Simon suffered from and survived a rare liver cancer that affects mostly adolescents and young adults, and was ecstatic that she was able to delve further into its mechanisms.
"It's crazy that I've been able to do this," she told The Associated Press.
But the New York City-based teen could not do it alone. She had help from her father, Dr. Sanford Simon, who runs a cellular biophysics lab at the Rockefeller University; her surgeon at Memorial Sloan-Kettering Cancer Center, Dr. Michael LaQuaglia; and gene specialists at the New York Genome Center. Another patient who survived the rare disease, but wished to remain anonymous, also co-authored the study.
The team reported their breakthrough Thursday in the journal Science, saying they'd found a break in genetic material that left the "head" of one gene fused to the "body" of another. The result was an irregular protein formation inside the tumor but not in normal liver tissue, possibly leading to cancer growth.
The abnormality has been found in all 15 tumors tested so far, but the study is small in scale, and more research is needed to further investigate the protein, lead author Sanford Simon writes.
Reaching this point was not easy. Simon, diagnosed at age 12, caught her disease early and underwent successful surgery - but this is the only effective treatment option. And with only 200 people diagnosed with the rare illness each year, according to the Fibrolamellar Cancer Foundation that funded the project, tissue to study was hard to come by.
The National Institutes of Health is currently helping Simon recruit more participants to get involved via a patient registry.