October is Liver Cancer Awareness Month, and at FibroFighters Foundation we want to highlight Fibrolamellar Carcinoma during this important month. Since Fibrolamellar is such a rare type of liver cancer, it’s important we consider it distinct from other liver cancers, like HCC. Here are some important distinctions and facts about fibrolamellar carcinoma:
- Rarity Fibrolamellar carcinoma (FLC) is a standalone cancer and should be diagnosed and treated as such! There are only between two to three hundred cases reported worldwide per year.
- Demographics FLC most commonly affects adolescent and young adult (AYA) patients. We have seen patients as young as five and rarely over 50. However typically patients are between 12 and 30, with the median age at diagnosis between 20-21.
- Etiology FLC is the result of a specific genetic abnormality: the formation of a fusion gene called DNAJB1-PRKACA. Unlike conventional liver cancer, the etiology is not linked to common risk factors like viral hepatitis, cirrhosis, or alcohol use.
- Pathology FLC is characterized by the presence of a fusion protein called DNAJB1-PRKACA, discovered at the New York Genome Center in 2013 and reported by Rockefeller in February of 2014. We have seen hybrid versions with gene variations in a handful of cases.
- Symptoms Common symptoms include upper right quadrant & referred shoulder pain, a palpable mass, weight loss, nausea, and jaundice. Symptoms can be vague and may resemble other conditions.
- Diagnosis Diagnosis typically involves imaging studies (like ultrasound, CT scans, or MRIs) and a biopsy checking for the fusion protein to confirm the presence of FLC.
- Staging Most FLC cases present at stage 3 or 4. We have found in about 20% of cases the tumor is small and confined to the liver making it a strong candidate for immediate resection.
- Treatment Options FibroFighters offers a unique multi-step approach emphasizing best longterm outcomes. We believe in systemic and local control, posssibly recommending a clinical trial if appropriate. The goal is a complete resection with N.E.D status. Each case is unique and all patients should be treated individually.
With the help of our relentless team and generous doners, FibroFighters continues to support this incredible community. We support all long and short term research projects and the use of clinical trials at the appropriate time for patients. Additionally, we conduct research that focuses on accurately creating a real time patient registry. We also utilize functional profiling and metabolic studies of FLC at the Nagourney Cancer Institute. Our partnership with BostonGene continues to help the creation of customized tumor portraits that can be shared with patients and their clinicians, presenting a detailed picture of their patients tumors microenvironment. Additionally, we are using new and improved Signatera CT-DNA monitoring test to track patients success with current treatments or microscopic tumor circulating in the bloodstream.
There is a long way to go still, but we are proud of all the incredible research being done and feel optimistic of where things can go. We dream every day to live in a world where fibrolamellar carcinoma is a thing of the past!