Elana Simon was 10 years old when she started to experience severe pains in her abdomen. For two years, puzzled doctors put forward diagnoses including lactose intolerance, Crohn’s disease and stress. It was not until 2008 that they pinpointed the real cause. Elana was suffering from fibrolamellar carcinoma (FLC), a rare, usually lethal, form of liver cancer.
Elana expressed to the Observer that having a term to describe her condition brought her some sense of comfort after experiencing much confusion. Prior to receiving a diagnosis, her life was a combination of unease and anxiety. With a diagnosis, she was able to direct her attention to something concrete.
The doctors successfully removed the tumor from Elana’s liver before it could spread, allowing her to survive. She has impressively overcome her illness. Following her education at Harvard, she joined her father’s laboratory at Rockefeller University in New York. Her father, Prof Sanford Simon, has devoted his career to studying and treating FLC since his daughter’s diagnosis.
“I will never forget the point at which I was made aware of Elana’s condition,” stated Professor Simon to the Observer. “I was resolved to uncover its cause and discover means of defeating it.”
“I was employed as a cell biologist at the time and could have easily advanced in my career. However, Elana’s diagnosis completely transformed my direction of research and now my entire focus is on cancer.”
Professor Simon’s research laboratory has made significant progress in identifying and understanding FLC with multiple noteworthy achievements. Recently, the lab received a £20 million grant from Cancer Research UK as part of their Cancer Grand Challenges awards program. These grants, in collaboration with the National Cancer Institute in the US, are given to research teams with innovative ideas that have the potential to advance cancer research.
A group, which involves the research team led by Prof Simon, has been awarded a Cancer Grand Challenge grant in order to facilitate the development of convenient therapies for disorders like FLC. Currently, the treatment options for pediatric solid tumors continue to depend on outdated chemotherapy methods, but the objective of this initiative is to create novel and simplified interventions.
Their win says much about the success scientists have had with FLC in recent years. When Prof Simon decided to start studying the cancer, its cause and roots were still a puzzle. Was it a single disease or were cases made up of people with different conditions that all had similar symptoms.
Furthermore, the origin of the illness remained unknown. “We were uncertain if it was hereditary or triggered by a particular environmental factor,” he explained.
At that moment, Elana intervened. She was a high school student at the time, but she is currently pursuing a PhD in both computer science and cancer biology at Stanford University in California. Elana had become close with several peers of similar age who were also battling pediatric cancer. Together with one of these friends, she created a YouTube video requesting others with the same type of cancer to contribute tissue samples to her father’s laboratory. Ultimately, they received 15 samples which were instrumental in assisting the Rockefeller team in making significant breakthroughs regarding the disease.
According to Elana, who led this aspect of the project, we initially discovered that the disease was caused by a single mutation that was consistent among all tumor samples.
Moreover, the research team discovered that FLC is not a hereditary condition. Professor Simon stated, “It is triggered by one environmental factor, which is significant because it implies that removing a tumor before it spreads can stop the disease from progressing. It is unlikely to recur.”
Prof Simon recognized that fibrolamellar carcinoma is extremely uncommon. Research indicates that there are only a small number of cases reported each year around the world, but recent studies indicate that the number may actually be in the thousands.
The key factor is that when examining typical cancers in adults, there are various underlying genetic mutations present in cells, making it challenging to identify the root cause of the disease. On the other hand, in childhood cancers such as FLC, there are fewer mutations present, making it easier to comprehend the mechanisms at play. This highlights the importance of studying cancers like FLC, as they can offer valuable insights that uncover broader principles.
Prof Simon explained that this also pertained to a rare eye cancer called retinoblastoma. Research on patients with this disease showed that there are certain genes that can suppress the growth of tumors, but they sometimes do not function properly. As a result, treatments utilizing this finding are currently in the process of being created for various types of cancer.
Elana expressed that their work on this carcinoma has the potential to not only benefit those diagnosed with FLC, but also provide valuable understanding of other forms of cancer. She mentioned that the funds from the Cancer Grand Challenge will greatly aid in their efforts.
Simultaneously, there is an expectation for easily implemented treatments for FLC to be created based on the knowledge already obtained about the condition.
According to Professor Simon, our ultimate objective is to develop medication that can be easily distributed in areas with limited access to healthcare. This is our ultimate objective.
Source: theguardian.com
