# Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients

Source: https://onco.cc/key-papers/paper-sausen-ctdna-pancreatic-resection-nat-commun-2015/  
OnCo record `paper-sausen-ctdna-pancreatic-resection-nat-commun-2015` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Nature Communications
- Year: 2015
- DOI: 10.1038/ncomms8686
- Authors: Sausen M, Phallen J, Adleff V, et al.
- 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.
- What it means: 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.

## Sources

- Sausen et al., Nat Commun 2015: tumour and circulating alterations in 101 patients: https://doi.org/10.1038/ncomms8686
- PubMed: https://pubmed.ncbi.nlm.nih.gov/26154128/

## Connected records

- biomarkers: [ctDNA MRD positivity (molecular residual disease after curative treatment)](https://onco.cc/biomarkers/ctdna-mrd-positive/)
- cancers: [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [Resectable pancreatic ductal adenocarcinoma](https://onco.cc/cancers/resectable-pdac/)
- technologies: [Liquid biopsy (ctDNA)](https://onco.cc/technologies/liquid-biopsy/), [MRD / molecular residual disease testing](https://onco.cc/technologies/mrd-testing/)
- targets: [ARID1A](https://onco.cc/targets/arid1a/), [KMT2C](https://onco.cc/targets/kmt2c/), [KMT2D](https://onco.cc/targets/kmt2d/)
- institutions: [Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center](https://onco.cc/institutions/johns-hopkins/)
- terms: [Cell-free DNA (cfDNA)](https://onco.cc/terms/cfdna/), [Circulating tumour DNA (ctDNA)](https://onco.cc/terms/ctdna/), [Minimal / molecular residual disease (MRD)](https://onco.cc/terms/mrd/)
- journals: [Nature Communications](https://onco.cc/journals/nature-communications/)

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