Novel Non-Protein Biomarkers for Early Detection of Hepatocellular Carcinoma

Villanueva, 2019, Hepatocellular carcinoma, N Engl J Med, 380, 1450, 10.1056/NEJMra1713263 Allemani, 2018, Global surveillance of trends in cancer survival 2000–14 (CONCORD-3): analysis of individual records for 37 513 025 patients diagnosed with one of 18 cancers from 322 population-based registries in 71 countries, Lancet, 391, 1023, 10.1016/S0140-6736(17)33326-3 Llovet, 2016, Hepatocellular carcinoma, Nat Rev Dis Primers, 2, 16018, 10.1038/nrdp.2016.18 Cancer stat facts: liver and and intrahepatic bile duct cancer [Internet]. Washington, DC: National Cancer Institute; c2020 [cited 2020 Jul 6]. Available from: https://seer.cancer.gov/statfacts/html/livibd.html. Van Meer, 2015, Surveillance for hepatocellular carcinoma is associated with increased survival: results from a large cohort in the Netherlands, J Hepatol, 63, 1156, 10.1016/j.jhep.2015.06.012 Marrero, 2018, Diagnosis, staging, and management of hepatocellular carcinoma: 2018 practice guidance by the American Association for the Study of Liver Diseases, Hepatology, 68, 723, 10.1002/hep.29913 European Association for the Study of the Liver, 2018, EASL Clinical Practice Guidelines: management of hepatocellular carcinoma, J Hepatol, 69, 182, 10.1016/j.jhep.2018.03.019 Kanwal, 2019, Surveillance for hepatocellular carcinoma: current best practice and future direction, Gastroenterology, 157, 54, 10.1053/j.gastro.2019.02.049 Singal, 2009, Meta-analysis: surveillance with ultrasound for early-stage hepatocellular carcinoma in patients with cirrhosis, Aliment Pharmacol Ther, 30, 37, 10.1111/j.1365-2036.2009.04014.x Tzartzeva, 2018, Surveillance imaging and alpha fetoprotein for early detection of hepatocellular carcinoma in patients with cirrhosis: a meta-analysis, Gastroenterology, 154, 1706, 10.1053/j.gastro.2018.01.064 Choi, 2013, Diagnostic value of AFP-L3 and PIVKA-II in hepatocellular carcinoma according to total-AFP, World J Gastroenterol, 19, 339, 10.3748/wjg.v19.i3.339 Johnson, 2014, The detection of hepatocellular carcinoma using a prospectively developed and validated model based on serological biomarkers, Cancer Epidemiol Biomarkers Prev, 23, 144, 10.1158/1055-9965.EPI-13-0870 FDA grants Breakthrough Device Designation for Roche's Elecsys GALAD score to support earlier diagnosis of hepatocellular carcinoma [Internet]. Basel: Roche; c2021 [cited 2020 Jul 30]. Available from: https://www.roche.com/media/releases/med-cor-2020-03-04.htm. Wen, 2015, Genome-scale detection of hypermethylated CpG islands in circulating cell-free DNA of hepatocellular carcinoma patients, Cell Res, 25, 1250, 10.1038/cr.2015.126 Xu, 2017, Circulating tumour DNA methylation markers for diagnosis and prognosis of hepatocellular carcinoma, Nat Mater, 16, 1155, 10.1038/nmat4997 Kisiel, 2019, Hepatocellular carcinoma detection by plasma methylated DNA: discovery, phase I pilot, and phase II clinical validation, Hepatology, 69, 1180, 10.1002/hep.30244 Cai, 2019, Genome-wide mapping of 5-hydroxymethylcytosines in circulating cell-free DNA as a non-invasive approach for early detection of hepatocellular carcinoma, Gut, 68, 2195, 10.1136/gutjnl-2019-318882 Tao, 2020, Machine learning-based genome-wide interrogation of somatic copy number aberrations in circulating tumor DNA for early detection of hepatocellular carcinoma, EBioMedicine, 56, 102811, 10.1016/j.ebiom.2020.102811 Jiang, 2018, Preferred end coordinates and somatic variants as signatures of circulating tumor DNA associated with hepatocellular carcinoma, Proc Natl Acad Sci USA, 115, E10925, 10.1073/pnas.1814616115 Zhou, 2011, Plasma microRNA panel to diagnose hepatitis B virus-related hepatocellular carcinoma, J Clin Oncol, 29, 4781, 10.1200/JCO.2011.38.2697 Tan, 2014, A serum microRNA panel as potential biomarkers for hepatocellular carcinoma related with hepatitis B virus, PLoS ONE, 9, e107986, 10.1371/journal.pone.0107986 Lin, 2015, A serum microRNA classifier for early detection of hepatocellular carcinoma: a multicentre, retrospective, longitudinal biomarker identification study with a nested case-control study, Lancet Oncol, 16, 804, 10.1016/S1470-2045(15)00048-0 Yuan, 2017, Circulating lncRNAs serve as diagnostic markers for hepatocellular carcinoma, Cell Physiol Biochem, 44, 125, 10.1159/000484589 Liu, 2020, A viral exposure signature defines early onset of hepatocellular carcinoma, Cell, 182, 10.1016/j.cell.2020.05.038 Qu, 2019, Detection of early-stage hepatocellular carcinoma in asymptomatic HBsAg-seropositive individuals by liquid biopsy, Proc Natl Acad Sci USA, 116, 6308, 10.1073/pnas.1819799116 Chen, 2021, Genome-scale profiling of circulating cell-free DNA signatures for early detection of hepatocellular carcinoma in cirrhotic patients, Cell Res, 31, 589, 10.1038/s41422-020-00457-7 Abbosh, 2017, Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution, Nature, 545, 446, 10.1038/nature22364 Von Felden, 2020, Liquid biopsy in the clinical management of hepatocellular carcinoma, Gut, 69, 2025, 10.1136/gutjnl-2019-320282 Labgaa, 2018, A pilot study of ultra-deep targeted sequencing of plasma DNA identifies driver mutations in hepatocellular carcinoma, Oncogene, 37, 3740, 10.1038/s41388-018-0206-3 Villanueva, 2015, DNA methylation-based prognosis and epidrivers in hepatocellular carcinoma, Hepatology, 61, 1945, 10.1002/hep.27732 Liu, 2020, Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA, Ann Oncol, 31, 745, 10.1016/j.annonc.2020.02.011 Tahiliani, 2009, Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1, Science, 324, 930, 10.1126/science.1170116 Song, 2017, 5-hydroxymethylcytosine signatures in cell-free DNA provide information about tumor types and stages, Cell Res, 27, 1231, 10.1038/cr.2017.106 Li, 2017, 5-hydroxymethylcytosine signatures in circulating cell-free DNA as diagnostic biomarkers for human cancers, Cell Res, 27, 1243, 10.1038/cr.2017.121 Xu, 2015, Non-invasive analysis of genomic copy number variation in patients with hepatocellular carcinoma by next generation DNA sequencing, J Cancer, 6, 247, 10.7150/jca.10747 Ivanov, 2015, Non-random fragmentation patterns in circulating cell-free DNA reflect epigenetic regulation, BMC Genomics, 16, S1, 10.1186/1471-2164-16-S13-S1 Jiang, 2015, Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients, Proc Natl Acad Sci USA, 112, E1317, 10.1073/pnas.1500076112 Cristiano, 2019, Genome-wide cell-free DNA fragmentation in patients with cancer, Nature, 570, 385, 10.1038/s41586-019-1272-6 Jiang, 2020, Plasma DNA end-motif profiling as a fragmentomic marker in cancer, pregnancy, and transplantation, Cancer Discov, 10, 664, 10.1158/2159-8290.CD-19-0622 Snyder, 2016, Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin, Cell, 164, 57, 10.1016/j.cell.2015.11.050 Ulz, 2016, Inferring expressed genes by whole-genome sequencing of plasma DNA, Nat Genet, 48, 1273, 10.1038/ng.3648 Cohen, 2018, Detection and localization of surgically resectable cancers with a multi-analyte blood test, Science, 359, 926, 10.1126/science.aar3247 Lennon, 2020, Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention, Science, 369, eabb9601, 10.1126/science.abb9601 Pepe, 2001, Phases of biomarker development for early detection of cancer, J Natl Cancer Inst, 93, 1054, 10.1093/jnci/93.14.1054