“Fighting Rare Cancers: Lessons from Fibrolamellar Hepatocellular Carcinoma”, 2023-03-17 ():
The fight against rare cancers faces myriad challenges, including missed or wrong diagnoses, lack of information and diagnostic tools, too few samples and too little funding. Yet many advances in cancer biology, such as the realization that there are tumour suppressor genes, have come from studying well-defined, albeit rare, cancers.
Fibrolamellar hepatocellular carcinoma (FLC), a typically lethal liver cancer, mainly affects adolescents and young adults. FLC is both rare, 1 in 5 million, and problematic to diagnose. From the paucity of data, it was not known whether FLC was one cancer or a collection with similar phenotypes, or whether it was genetically inherited or the result of a somatic mutation.
A personal journey through a decade of work reveals answers to these questions and a road map of steps and missteps in our fight against a rare cancer.
Introduction: The moment I learned my 12-year-old daughter Elana had a rare, lethal liver cancer is, not surprisingly, seared into my memory. It had taken us years to get the diagnosis. We had already been told her incessant abdominal pains might be due to lactose intolerance, or Crohn’s disease, or tween-related stress. None was true. When the pain became acute, we were told to rush to the hospital for a possible appendectomy. A pre-operative scan revealed a 15 cm mass in her liver, ruled a bacterial abscess. However, when a tube was inserted to drain the abscess, little fluid came out. Then, we were told it was a liver cancer, “the fibrolamellar variant of hepatocellular carcinoma”. They said there was nothing that could be done.
…The partial hepatectomy was a success. Two days later, as she lay recovering in her hospital room, she opened her laptop and searched for ‘fibrolamellar’. The first paper she found showed a 5-year survival rate of close to zero, with no patients younger than 23 years old surviving3. Recurrence had been reported to be 86%4. I recalled the trauma of my younger brother Billy, with a medical ailment when I was 9 years old. At that time, I knew little and could do less. Now, a scientist with a laboratory, still scarred by memories of Billy’s loss, I vowed this time would be different.