{"entity":{"id":"paper-spot-mas-elife-2023","kind":"paper","name":"Multimodal analysis of methylomics and fragmentomics in plasma cell-free DNA for multi-cancer early detection and localization","aka":[],"tldr":"The development study of SPOT-MAS: reading methylation and fragment patterns together, with shallow sequencing, found about seven in ten of five cancers in a laboratory comparison.","summary":"Nguyen and colleagues developed SPOT-MAS to profile methylomics, fragmentomics, copy number and end motifs from targeted and shallow genome-wide sequencing (about 0.55x) of cell-free DNA. In 738 non-metastatic patients with breast, colorectal, gastric, lung or liver cancer and 1,550 healthy controls it detected cancer with 72.4% sensitivity at 97.0% specificity; sensitivities were 73.9% at stage I, 62.3% at stage II and 88.3% at non-metastatic stage IIIA. Tumour-of-origin accuracy was 0.7.","asOf":"2026-10-29","links":[{"label":"eLife 2023: SPOT-MAS","url":"https://doi.org/10.7554/eLife.89083"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/37819044/"}],"tags":[],"related":[],"cancers":[],"sections":["early-detection"],"technologies":["mced","fragmentomics","cfdna-methylation-testing"],"targets":[],"drugs":["spot-mas"],"companies":["gene-solutions"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["elife"],"dependsOn":[],"notes":[],"journal":"eLife","year":2023,"doi":"10.7554/eLife.89083","pmid":"37819044","authors":"Nguyen VTC, Nguyen TH, Doan NNT, et al.","paperType":"translational","findings":["72.4% sensitivity at 97.0% specificity.","Stage I 73.9%, stage II 62.3%.","Tumour-of-origin accuracy 0.7."],"whatItMeans":"High early-stage figures at a lower specificity than screening needs; in the prospective K-DETEK study the test was run at 99.7% specificity.","caveats":["Case-control; 97% specificity would mean 3 in 100 false positives in screening.","Authors include Gene Solutions staff."],"changedPractice":false,"participants":2288},"route":"/key-papers/paper-spot-mas-elife-2023/","neighbours":{"section":[{"id":"early-detection","kind":"section","name":"Early Detection & Screening","route":"/fronts/early-detection/"}],"technology":[{"id":"cfdna-methylation-testing","kind":"technology","name":"Cell-free DNA methylation tests","route":"/technologies/cfdna-methylation-testing/"},{"id":"fragmentomics","kind":"technology","name":"cfDNA fragmentomics","route":"/technologies/fragmentomics/"},{"id":"mced","kind":"technology","name":"Multi-cancer early detection (MCED)","route":"/technologies/mced/"}],"drug":[{"id":"spot-mas","kind":"drug","name":"SPOT-MAS","route":"/drugs/spot-mas/"}],"company":[{"id":"gene-solutions","kind":"company","name":"Gene Solutions","route":"/companies/gene-solutions/"}],"journal":[{"id":"elife","kind":"journal","name":"eLife","route":"/journals/elife/"}]}}