Abstract 4353: The Fibrolamellar Registry: A patient-based medical registry can address medical care

Advances in genomics and proteomics have enabled more precise characterizations of tumors with the consequence that many cancers are being segregated into smaller categories. With this larger number of categories, more cancers are being categorized as rare. The downside to such categorizations is that the reduced numbers of patients in each category makes it difficult to gather enough information about each cancer. We are a group of patients and caregivers who have joined together to form a repository for patient-shared data and reports in an IRB-approved, non-profit medical registry for the rare and usually lethal childhood liver cancer fibrolamellar hepatocellular carcinoma (FLC). Since the Fibrolamellar Registry is patient-run and patient-owned, we have the trust of the patient community that the records will not be sold for profit. This has enabled us, in our first 3 years, to gather detailed medical records, scans and tests from over 170 patients. With input from scientists and clinicians who study FLC, we have written 600 questions of specific interest to this disease. Most of our patients have also opted to allow these medical records to be shared with a tissue FLC repository that already has samples from 110 patients. Many of patients with FLC get hyperammonenic encephalopathy. These patients do not respond to lactulose and, unfortunately, often enter a coma and die from the condition. From evaluation of our medical records the results indicate that patients do not have hyperammonenic encephalopathy as a result of liver failure. Instead, it is the result of an alteration of the expression of ornithine transcarbamylase, as a consequence of the expression of oncokinase that drives fibrolamellar. These alterations of ornithine transcarbamylase shift the urea acid cycle, resulting in the buildup of ammonia. This suggests that hyperammonemic encephalopathy should be treated with agents that modulate the urea acid cycle rather than lactulose. These results are an example of the power of a patient-run medical registry.

Citation Format: Julie Latone Newcomb, Siobhan Lett, Rachael D. Migler, Elana P. Simon, Sanford M. Simon. The Fibrolamellar Registry: A patient-based medical registry can address medical care [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 4353.