At the age of 10, Elana Simon began to endure intense abdominal pain. Over the course of two years, perplexed medical professionals suggested various explanations such as lactose intolerance, Crohn’s disease, and stress. However, it wasn’t until 2008 that they finally identified the true source of her suffering – fibrolamellar carcinoma (FLC), a rare and typically fatal type of liver cancer.

Elana shared with the Observer that finding a name for her affliction was a source of solace for her, as she had been struggling with understanding her condition for quite some time. Prior to being diagnosed, her life was filled with both discomfort and fear. With a diagnosis, she now had a clear direction to focus on.

Surgeons were able to cut out the tumour, which had yet to spread out of her liver, and Elana survived. Indeed, she has triumphed over her affliction in a remarkable manner. After studying at Harvard, she joined the laboratory at New York’s Rockefeller University run by her father, Prof Sanford Simon, who since his daughter’s diagnosis has dedicated his career to tacking FLC.

“The moment I learned of Elana’s condition is seared into my memory,” Prof Simon told the Observer. “I was determined to find out what caused it and find ways to counter it.

At the time, I was employed as a cell biologist and could have easily continued on my career path. However, upon learning of Elana’s diagnosis, everything changed and I shifted my research focus entirely to cancer.

Prof Simon’s lab’s research has resulted in significant advancements in identifying the cause and patterns of FLC. This work has been further supported by a £20m grant from Cancer Research UK, which was awarded as part of the Cancer Grand Challenges awards this month. These grants, given in collaboration with the National Cancer Institute in the US, support research groups with innovative ideas that have the potential to advance cancer research.

A team, including Prof Simon’s lab, has received a Cancer Grand Challenge grant to research and create accessible treatment options for conditions like FLC. Current treatments for childhood solid tumors continue to rely on chemotherapy methods from decades ago, and the goal of this project is to develop simpler interventions.

The victory highlights the great progress scientists have made in utilizing FLC in the past few years. Initially, when Professor Simon began researching the cancer, its underlying cause and origins remained a mystery. Was it a singular illness or a combination of various conditions that displayed similar symptoms?

Furthermore, the origin of the illness was unknown. He explained, “We were unsure if it was passed down genetically or triggered by a particular environmental factor.”

At that moment, Elana, who was a high school student at the time but is currently pursuing a PhD in computer science and cancer biology at Stanford University in California, took action. She explains, “I had made many friends my age who were also dealing with pediatric cancer diagnoses and treatments.” Elana and one of her friends created a YouTube video asking individuals with the same type of cancer to contribute tissue samples to her father’s lab. The result was 15 samples, which greatly aided the team at Rockefeller in making significant findings about the illness.

Elana, who led this portion of the project, stated that they initially discovered a singular mutation found in all tumor samples, which was the root cause of the disease.

Moreover, the research team discovered that FLC was not a hereditary disorder. According to Professor Simon, this was a critical finding as it indicated that if a tumor was removed before it spread, the disease could be stopped. The chances of it coming back were slim.

According to Professor Simon, fibrolamellar carcinoma is an uncommon cancer. While previous research has estimated only a few hundred cases globally per year, newer studies indicate that the number may be in the thousands.

“The crucial point is that if you look at common cancers in adults, you come across all sorts of background genetic mutations in cells, and that makes it difficult to assess what is driving the disease,” he said. “However, with a childhood cancer like FLC, relatively few mutations develop and so it becomes much easier to understand what is going on. In this way, cancers like these provide critical insights that reveal general principles.”

Professor Simon mentioned that this discovery was also applicable to a rare type of cancer called retinoblastoma, specifically affecting the eyes. Further research on patients with this condition revealed the presence of genes that help suppress tumor growth. While these genes typically prevent the spread of cancer, they may sometimes fail. As a result, treatments targeting these genes are being developed for various forms of cancer.

Elana expressed her aspirations for the impact that their research on carcinoma can have. She believes that not only will it assist individuals with FLC like herself, but it will also offer valuable knowledge for other forms of cancer. Elana acknowledges the significant impact that the Cancer Grand Challenge funds will have on their efforts.

The goal is to develop easily administered therapies for FLC using the insights previously obtained about the disease.

The ultimate objective, as stated by Professor Simon, is to develop medications that can be easily taken in tablet form in areas with inadequate healthcare. This is the ultimate aim.

Source: theguardian.com