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Teenager uncovers genetics behind her own rare cancer

3 March 2014
Appeared in BioNews 744

A recovering teenage cancer patient is a lead author of a study into the rare form of liver cancer she contracted. The research, published in Science, identified a key mutation that may explain the uncontrolled growth of the tumour.

Fibrolamellar hepatocellular cancer is a rare liver cancer that affects around 200 teenagers and young adults each year, worldwide. Elana Simon, 18, was diagnosed with this rare condition when she was 12 years old. Usually, surgery is the only effective treatment for this cancer, with few options if the tumour spreads. Research into such rare conditions is often difficult, due to a lack of cases and data to study.

Years later Simon was studying another type of cancer in mice during an internship while at high school. She decided to try the same computer science approach with the liver cancer she survived. Elana turned to her father, Professor Sanford Simon, head of Rockefeller University's Laboratory of Cellular Biophysics, and the New York Genome Centre, for help.

Her research was extended and led to a clinical study. Researchers analysed DNA sequences of tumours removed from 15 people with fibrolamellar hepatocellular cancer. They compared these to sequences from healthy tissue and spotted one big difference in all 15 patients: a piece of DNA that had been broken and rejoined. These mutated sections are called chimeras.

Simon explained: 'A number of other types of tumours have been shown to be driven by chimeras, but this one is unique - it codes for a kinase, an enzyme that modifies other proteins, that has not been identified in cancers'.

Her father said he hopes to develop a blood screen for the cancer. 'The hope is that we'd be able to screen the blood for the presence of this chimera, and patients wouldn't have to wait until the tumours are present, until it might be too late, to do something about it'.

However, Professor Simon cautions that the study is a small one and needs much more work to help understand what the gene flaw does.

But despite the small-scale nature of the research, Elana Simon's participation led more patients becoming involved in the research after she posted a video on YouTube explaining how other patients could get involved.
SOURCES & REFERENCES
Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma
Science |  28 February 2014
Researchers discover unusual genetic mutation linked to adolescent liver cancer
The Rockefeller University (press release) |  28 February 2014
Teen Helped Research Her Own Disease
Wall Street Journal |  27 February 2014
Teen helps scientists study her own rare disease
Yahoo! News |  27 February 2014
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