Zack Travis, Losert Kurt P, Maisel Samantha M, Wild Jennifer, Yaqubie Amin, Herman Michael, Knox Jennifer J, Mayer Robert J, Venook Alan P, Butte Atul, O'Neill Allison F, Abou-Alfa Ghassan K, Gordan John D
Helen Diller Family Comprehensive Cancer Center (HDFCCC), University of California, San Francisco (UCSF), San Francisco, CA, USA.
Bakar Computational Health Sciences Institute, University of California, San Francisco, CA, USA.
NPJ Precis Oncol. 2023 Mar 23;7(1):29. doi: 10.1038/s41698-023-00371-2.
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.
罕见肿瘤亚型的发病率及生化后果往往难以研究。纤维板层型肝癌(FLC)是一种影响青少年和青年的罕见恶性肿瘤。为了更好地描述这种疾病的发病率及生化后果,我们综合分析了电子病历和全国医保数据,发现FLC的发病率可能比之前的估计高五到八倍。通过对高氨血症患者的临床实验室数据进行无监督学习,我们发现FLC相关的高氨血症反映了尿素循环障碍中的代谢失调。我们的研究结果表明,对丰富的临床数据集进行先进的计算分析可以为罕见癌症提供关键的临床和生化见解。