Young Survivor of Rare Fibrolamellar Carcinoma Works Towards a Cure

Scientists are moving forward with advances in diagnosing, understanding, and treating some of the least common cancers.

In 2008, 12-year-old Elana Simon and her family were told that the pains in her stomach were the result of a tumor in her liver the size of a grapefruit. For years doctors attributed these pains had been attributed to lactose intolerance, stress or Crohn’s disease.

Elana’s cancer fell into a rare category that is the fibrolamellar variant of hepatocellular carcinoma now known as fibrolamellar carcinoma (FLC). Fibrolamellar are the thick bands of collagen surrounding the cancer cells.

It was not well understood at the time.  The five-year survival rate for liver cancer in general is 21.6%.

Elana’s father, Sanford “Sandy” Simon, explained that patients usually have no underlying liver symptoms, making it difficult to diagnose.

About Rare Cancers

The National Cancer Institute defines rare cancers as cancers that affect less than 40,000 individuals in the U.S. or 200 cases around the world each year. They are rarely seen even at major cancer centers. Elana’s cancer diagnosis was one of five million.
Due to limited data, researchers did not have sufficient tissue to analyze resulting in a lack of clues about the biology of Elana’s disease.

Surgery, the removal of the liver tumor and surrounding lymph nodes, is still the primary treatment option for FLC. Elana underwent an operation to remove a portion of her liver that included the cancerous mass.

Elana says that being born into a family of scientists led her to follow her instincts and ask questions. She was attending high school and researching for her high school internship when she had an idea to genetically sequence fibrolamellar carcinoma. Elana asked her surgeon, Dr. LaQuaglia, to help her develop the idea. They were successful in reaching out to patients across the country requesting and receiving tumor samples.

Elana also worked with the Fibrolamellar Cancer Foundation and created a YouTube video for other patients. It was successful as well. People responded asking how they can help and donated a total of fifteen tissue samples.

Now that they had acquired a small number of tissue samples, Simon, Elana’s father, was able to utilize his research lab to uncover some of the mysteries surrounding Elana’s cancer.

The results of their analyses were remarkable. All FLC samples shared the loss of DNA causing two separate genes to fuse together. A mutation caused one gene to bind to part of a second gene and the result was a unique RNA molecule. Surprisingly the chimera appeared in all fifteen tumor samples.

Further study showed that mice engineered to harbor the same fusion protein developed the same liver tumors. Dr. Robert Darnell headed the team at the N.Y. Genome Center consisting of geneticists, physicians, computational biologists and Elana, an eighteen-year-old co-author of a study that was published in the journal Science February 2014.

In 2016 the Simon family launched a registry for Fibrolamellar patients to collect health data from medical records. The registry has 250 participants from 21 countries.
Patterns.org is a non-profit website allowing patients to send their tumor tissue samples directly to researchers who are studying their disease together with the Rare Cancer Research Foundation (RCRF). MD Anderson has now expanded its to collect tumors from 10,000 individuals.

Although each type of rare cancer may impact only a few individuals, collectively one in four people diagnosed with cancer has a tumor that is considered rare.

Click here to learn more about Elana’s story.

fibrolamellar carcinoma liver cancer rare cancer research

Last modified: October 16, 2024