Teen cancer survivor Elana Simon helps scientists study her own rare disease
The eighteen-year-old helped scientists discover a gene flaw that could play a role in how the tumour strikes
A teenager who survived a rare form of cancer went on to help discover a gene flaw that could play a role in how the tumour strikes.
Elana Simon was diagnosed with Fibrolamellar Hepatocellular Carcinoma, a rare form of cancer which mostly affects adolescents and young adults, when she was 12-years-old.
Surgery is currently the only effective treatment if the tumour is caught in time.
Ms Simon, along with her father, who runs a cellular biophysics lab at the Rockefeller University, her surgeon at Memorial Sloan-Kettering Cancer Center, and gene specialists at the New York Genome Center looked at data on genetic mutations in a laboratory studying another type of cancer.
This was then compared with samples of the tumour to identify differences in cells for their study, published in the journal Science.
The team found a break in genetic material that left the "head" of one gene fused to the "body" of another in 15 tumours they tested.
This results in an abnormal protein forming inside the tumour but not in normal liver tissue, suggesting it might fuel cancer growth, the researchers wrote.
At the collaborating New York Genome Center, which genetically mapped the samples, co-author Nicolas Robine said a program called FusionCatcher ultimately zeroed in on the strange mutation.
Ms Simon's father Sanford said other researchers then conducted laboratory experiments to show the abnormal protein really is active inside tumour cells.
What has proven difficult for the study is finding enough tumours to test, as just 200 people a year worldwide are diagnosed, according to the Fibrolamellar Cancer Foundation, which helped fund the research. There is also no registry that keeps tissue samples after surgery.
Scientists at the National Institutes of Health are now advising Ms Simons on how to set up a patient registry, and NIH's Office of Rare Diseases Research has posted on its web site a YouTube video in which Elana Simon and a fellow survivor explain why to get involved.
The study was co-authored by another survivor of that particular form of cancer who did not want to be identified.
Additional reporting by Associated Press
- 1 Al Pacino on suffering from depression: 'It can last and it's terrifying'
- 2 Half of young women unable to ‘locate vagina’ and 65% find it difficult to say the word
- 3 Saudis risk new Muslim division with proposal to move Mohamed’s tomb
- 4 A teacher speaks out: 'I'm effectively being forced out of a career that I wanted to love'
- 5 Mexican woman becomes world’s 'oldest person' at 127
Perez Hilton apologises for publishing Jennifer Lawrence naked photo leak
Jennifer Lawrence 'nude photo hacker' claims there are hundreds more celebrity images to be published
Victoria Justice on naked photo leak: 'Let me nip this in the bud right now – pun intended'
Saudis risk new Muslim division with proposal to move Mohamed’s tomb
Ariana Grande nude photos leak: Pictures are completely fake, say singer's representatives
Rotherham child sex abuse scandal: Labour Home Office to be probed over what Tony Blair's government knew - and when
What do immigrants really think of Britain? Polish immigrant's Reddit post goes viral
Ashya King: Parents of five-year-old boy refused permission to visit him in hospital and denied bail at Spanish court
With Douglas Carswell joining Ukip, my party has taken another giant step forward
When elitism grips the top of British society to this extent, there is only one answer: abolish private schools
Ashya King: 'Cruel NHS has not given us the treatment we need', says father of five-year-old with brain tumour who fled to Spain
£30000 - £35000 per annum + benefits: Ashdown Group: A highly successful organ...
£35000 - £38000 per annum + benefits: Ashdown Group: A highly successful, glob...
£50 - £70 per day: Randstad Education Chelmsford: Are you a Teaching Assistant...
Negotiable: Randstad Education Plymouth: Randstad Education Ltd are seeking KS...