Elana Simon was 12 years old when she was diagnosed with a rare form of liver cancer. Six years later, she not only made it as a survivor, but also she actually contributed something that could provide more insights about her rare disease.
Simon's illness is known as fibrolamellar hepatocellular carcinoma (FHCC), a rare form of liver cancer that often occurs in young adults who do not have history of liver disease. Only around 200 people worldwide are diagnosed with this illness each year. The typical treatment involves surgical removal of the tumor although chemotherapy is also used if surgery isn't possible.
An internship during her sophomore year allowed Simon to use her computer skills to help researchers studying another type of cancer and this gave her the idea to try the same approach with the liver cancer she has survived.
Simon's eagerness to study her disease required that she get help from real scientists but having a father who runs a cellular biophysics lab at the Rockefeller University in New York does not hurt at all. She enlisted the help of her father as well as collaborated with other scientists including her surgeon at Memorial Sloan-Kettering Cancer Center in New York and another FHCC survivor, who declined to be identified, to study the rare disease.
Together the research team found a genetic flaw associated with FHCC. Their study "Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma", has been published in the Feb. 28 issue of the journal Science.
"Because of the deletion and then rejoining of the DNA, a new gene that was a mixture of two previous genes was created, called a chimera," said Elana Simon. "A number of other types of tumors have been shown to be driven by chimeras, but this one is unique - it codes for a kinase, an enzyme that modifies other proteins, that has not been identified in cancers."
Study coauthor and Simon's father Sanford Simon described the research as a small study as it only involved 15 patients and pointed out a need for further research to know what the gene flaw really does. The younger Simon's participation, however, has led more patients to be involved in the research.
One of the challenges with studying and treating rare diseases is there is often not enough cases and data available to study them making it hard to know exactly how to cure them. Compared to more than 200,000 new cases of prostate cancers in the United States each year, there are only about 200 new cases of fibrolamellar in the world per year which means that doctors do not know much about the illness.
Rare diseases such as the FHCC often end up misdiagnosed. Drugs are also rare and more difficult to develop because of limited sample sizes needed for experimental trials.