Authors: | Zack, T.; Losert, K. P.; Maisel, S. M.; Wild, J.; Yaqubie, A.; Herman, M.; Knox, J. J.; Mayer, R. J.; Venook, A. P.; Butte, A.; O’Neill, A. F.; Abou-Alfa, G. K.; Gordan, J. D. |
Article Title: | Defining incidence and complications of fibrolamellar liver cancer through tiered computational analysis of clinical data |
Abstract: | The incidence and biochemical consequences of rare tumor subtypes are often hard to study. Fibrolamellar liver cancer (FLC) is a rare malignancy affecting adolescents and young adults. To better characterize the incidence and biochemical consequences of this disease, we combined a comprehensive analysis of the electronic medical record and national payer data and found that FLC incidence is likely five to eight times higher than previous estimates. By employing unsupervised learning on clinical laboratory data from patients with hyperammonemia, we find that FLC-associated hyperammonemia mirrors metabolic dysregulation in urea cycle disorders. Our findings demonstrate that advanced computational analysis of rich clinical datasets can provide key clinical and biochemical insights into rare cancers. © 2023, The Author(s). |
Keywords: | adult; major clinical study; liver cell carcinoma; cancer incidence; clinical practice; phenotype; electronic medical record; comorbidity; diagnostic error; liver cancer; clinical laboratory; patient referral; monte carlo method; rare disease; ammonia; ammonia blood level; hyperammonemia; biochemical analysis; machine learning; human; article; single cell rna seq; urea cycle disorder; icd-10-cm; fibrolamellar liver cancer |
Journal Title: | npj Precision Oncology |
Volume: | 7 |
ISSN: | 2397-768X |
Publisher: | Springer Nature |
Date Published: | 2023-03-23 |
Start Page: | 29 |
Language: | English |
DOI: | 10.1038/s41698-023-00371-2 |
PROVIDER: | scopus |
PMCID: | PMC10034241 |
PUBMED: | 36959495 |
DOI/URL: | |
Notes: | Article -- Export Date: 1 May 2023 -- Source: Scopus |