{"entity":{"id":"paper-sausen-ctdna-pancreatic-resection-nat-commun-2015","kind":"paper","name":"Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients","aka":[],"tldr":"Sequencing tumours and blood from 101 patients found that mutations in chromatin genes go with better survival and that tumour DNA can be found in the blood of 43% of patients with localised cancer, flagging relapse six and a half months before a scan.","summary":"Whole-exome analyses of 24 tumours and targeted genomic analyses of 77 were combined with non-invasive examination of tumour-specific mutations in the circulation. Somatic mutations in the chromatin-regulating genes MLL, MLL2, MLL3 and ARID1A were found in 20% of patients and associated with improved survival; alterations in genes with potential therapeutic utility were found in over a third of cases. Liquid biopsy showed detectable circulating tumour DNA at diagnosis in 43% of patients with localised disease, and detection after resection predicted clinical relapse and poor outcome, with recurrence detected by ctDNA 6.5 months earlier than by computed tomography.","asOf":"2026-09-24","links":[{"label":"Sausen et al., Nat Commun 2015: tumour and circulating alterations in 101 patients","url":"https://doi.org/10.1038/ncomms8686"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/26154128/"}],"tags":[],"related":["ctdna-mrd-positive"],"cancers":["pancreatic","resectable-pdac"],"sections":[],"technologies":["liquid-biopsy","mrd-testing"],"targets":["arid1a","kmt2c","kmt2d"],"drugs":[],"companies":[],"institutions":["johns-hopkins"],"pathways":[],"terms":["ctdna","mrd","cfdna"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nature-communications"],"dependsOn":[],"notes":[],"journal":"Nature Communications","year":2015,"doi":"10.1038/ncomms8686","pmid":"26154128","authors":"Sausen M, Phallen J, Adleff V, et al.","paperType":"translational","findings":["Chromatin gene mutations in 20%, associated with improved survival.","ctDNA detectable in 43% of localised disease at diagnosis.","Post-resection ctDNA predicted relapse 6.5 months before imaging."],"whatItMeans":"The first demonstration that molecular residual disease can be read in pancreatic cancer and that it moves months ahead of the scan.","caveats":["Small cohort; detection depends on assay sensitivity.","No trial has yet shown that acting on the result helps."],"changedPractice":false,"participants":101},"route":"/key-papers/paper-sausen-ctdna-pancreatic-resection-nat-commun-2015/","neighbours":{"biomarker":[{"id":"ctdna-mrd-positive","kind":"biomarker","name":"ctDNA MRD positivity (molecular residual disease after curative treatment)","route":"/biomarkers/ctdna-mrd-positive/"}],"cancer":[{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"resectable-pdac","kind":"cancer","name":"Resectable pancreatic ductal adenocarcinoma","route":"/cancers/resectable-pdac/"}],"technology":[{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/"},{"id":"mrd-testing","kind":"technology","name":"MRD / molecular residual disease testing","route":"/technologies/mrd-testing/"}],"target":[{"id":"arid1a","kind":"target","name":"ARID1A","route":"/targets/arid1a/"},{"id":"kmt2c","kind":"target","name":"KMT2C","route":"/targets/kmt2c/"},{"id":"kmt2d","kind":"target","name":"KMT2D","route":"/targets/kmt2d/"}],"institution":[{"id":"johns-hopkins","kind":"institution","name":"Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center","route":"/institutions/johns-hopkins/"}],"term":[{"id":"cfdna","kind":"term","name":"Cell-free DNA (cfDNA)","route":"/terms/cfdna/"},{"id":"ctdna","kind":"term","name":"Circulating tumour DNA (ctDNA)","route":"/terms/ctdna/"},{"id":"mrd","kind":"term","name":"Minimal / molecular residual disease (MRD)","route":"/terms/mrd/"}],"journal":[{"id":"nature-communications","kind":"journal","name":"Nature Communications","route":"/journals/nature-communications/"}]}}