Defining incidence and complications of fibrolamellar liver cancer through tiered computational analysis of multiple clinical data types.

Abstract Importance: The incidence and biochemical consequences of rare tumor subtypes are often hard to study. Fibrolamellar liver cancer (FLC) is one such rare malignancy affecting adolescents and young adults. To better characterize the incidence and biochemical consequences of this disease, we combined a comprehensive analysis of electronic medical record and national payee data and find that FLC incidence is likely 6–8 times higher than previous estimates. By deploying unsupervised learning modes on clinical laboratory data on patients with hyperammonemia, we find that FLC-associated hyperammonemia mirrors metabolic dysregulation in Urea Cycle Disorders. We demonstrate that advanced computational analysis of rich clinical datasets can provide key clinical and biochemical insights into rare cancers.