Teenager Elana Simon helps write study into her own cancer

First, the American teenager survived a rare cancer. Then she wanted to study it, spurring research that helped scientists find a weird gene flaw that might play a role in how the tumour strikes.

At 18, she is young to be listed as an author of a study in the prestigious journal Science, but the industrious high school student's efforts are bringing new attention to a mysterious disease.

"It's crazy that I've been able to do this," said Elana Simon, describing her idea to study the extremely rare form of liver cancer that hits mostly adolescents and young adults.

Making her idea work required a lot of help from real scientists in New York: her father, who runs a cellular biophysics laboratory at Rockefeller University; her surgeon at Memorial Sloan-Kettering Cancer Centre; and gene specialists at the New York Genome Centre. A second survivor of the cancer, who the journal said did not want to be identified, also co-authored the study.

Together, the team reported that they had uncovered an oddity: a break in genetic material that leaves the "head" of one gene fused to the "body" of another. It results in an abnormal protein that forms inside tumours but not in normal liver tissue, suggesting it might fuel cancer growth, the researchers wrote. They have found the evidence in all 15 of the tumours tested so far.

It was a small study, and more research was needed to see what this gene flaw really does, said Sanford Simon, the teenager's father and the study's senior author.

But the project is already encouraging more patients to become involved in scientific research. Scientists at the National Institutes of Health are advising the Simons on how to set up a patient registry, and its Office of Rare Diseases Research has posted on its website a YouTube video in which Elana Simon and a fellow survivor explain why people should get involved.

"Fibrolamellar Hepatocellular Carcinoma. Not easy to pronounce. Not easily understood," it says.

Simon was diagnosed when she was 12. Surgery is the only effective treatment, and her tumour was caught in time. But there are few options if the cancer spreads, and Simon knows other patients who were not so lucky.

The idea for the project came during a high school internship when Simon used her computer science skills to help researchers sort data on genetic mutations in a laboratory studying another type of cancer. She wondered if the same approach could be taken with the liver cancer she had survived.

The hurdle was finding enough tumours to test. Only about 200 people a year worldwide are diagnosed, according to the Fibrolamellar Cancer Foundation, which helped fund the new study. There was no registry that kept tissue samples after surgery.

But Simon's surgeon, Sloan-Kettering's Dr Michael LaQuaglia, agreed to help, and Simon spread the word to patient groups. Finally, samples trickled in, and Sanford Simon said his daughter was back on the computer helping to analyse what was different in the tumour cells.

At the New York Genome Centre, which genetically mapped the samples, co-author Nicolas Robine said a programme called FusionCatcher ultimately zeroed in on the mutation.

Sanford Simon said other researchers then conducted laboratory experiments to show that the abnormal protein really is active inside tumour cells.

As for Elana Simon, she is planning to study computer science at Harvard University in the autumn.