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

Start your day with The Independent, sign up for daily news emails
ebooks
ebooksA special investigation by Andy McSmith
  • Get to the point
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Ashdown Group: Management Accountant / Analyst (CIMA finalist/newly qualified)

£32000 - £38000 per annum + Benefits: Ashdown Group: Management Accountant / F...

Recruitment Genius: Software Developer - .NET

£27000 - £32000 per annum: Recruitment Genius: This leading provider of a mark...

Recruitment Genius: Help Desk Specialist

£25000 - £35000 per annum: Recruitment Genius: This company provides Reliabili...

Recruitment Genius: Senior Managing Engineer

Negotiable: Recruitment Genius: This leading provider of refrigeration, mechan...

Day In a Page

No postcode? No vote

Floating voters

How living on a houseboat meant I didn't officially 'exist'
Louis Theroux's affable Englishman routine begins to wear thin

By Reason of Insanity

Louis Theroux's affable Englishman routine begins to wear thin
Power dressing is back – but no shoulderpads!

Power dressing is back

But banish all thoughts of Eighties shoulderpads
Spanish stone-age cave paintings 'under threat' after being re-opened to the public

Spanish stone-age cave paintings in Altamira 'under threat'

Caves were re-opened to the public
'I was the bookies’ favourite to be first to leave the Cabinet'

Vince Cable interview

'I was the bookies’ favourite to be first to leave the Cabinet'
Election 2015: How many of the Government's coalition agreement promises have been kept?

Promises, promises

But how many coalition agreement pledges have been kept?
The Gaza fisherman who built his own reef - and was shot dead there by an Israeli gunboat

The death of a Gaza fisherman

He built his own reef, and was fatally shot there by an Israeli gunboat
Saudi Arabia's airstrikes in Yemen are fuelling the Gulf's fire

Saudi airstrikes are fuelling the Gulf's fire

Arab intervention in Yemen risks entrenching Sunni-Shia divide and handing a victory to Isis, says Patrick Cockburn
Zayn Malik's departure from One Direction shows the perils of fame in the age of social media

The only direction Zayn could go

We wince at the anguish of One Direction's fans, but Malik's departure shows the perils of fame in the age of social media
Young Magician of the Year 2015: Meet the schoolgirl from Newcastle who has her heart set on being the competition's first female winner

Spells like teen spirit

A 16-year-old from Newcastle has set her heart on being the first female to win Young Magician of the Year. Jonathan Owen meets her
Jonathan Anderson: If fashion is a cycle, this young man knows just how to ride it

If fashion is a cycle, this young man knows just how to ride it

British designer Jonathan Anderson is putting his stamp on venerable house Loewe
Number plates scheme could provide a licence to offend in the land of the free

Licence to offend in the land of the free

Cash-strapped states have hit on a way of making money out of drivers that may be in collision with the First Amendment, says Rupert Cornwell
From farm to fork: Meet the Cornish fishermen, vegetable-growers and butchers causing a stir in London's top restaurants

From farm to fork in Cornwall

One man is bringing together Cornwall's most accomplished growers, fishermen and butchers with London's best chefs to put the finest, freshest produce on the plates of some of the country’s best restaurants
Robert Parker interview: The world's top wine critic on tasting 10,000 bottles a year, absurd drinking notes and New World wannabes

Robert Parker interview

The world's top wine critic on tasting 10,000 bottles a year, absurd drinking notes and New World wannabes
Don't believe the stereotype - or should you?

Don't believe the stereotype - or should you?

We exaggerate regional traits and turn them into jokes - and those on the receiving end are in on it too, says DJ Taylor