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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Predicting Recurrence of Stage IA Lung Adenocarcinoma Using Circulating Tumor Cell-Free DNA Whole-Genome Mutational
Matija Snuderl1, James Smadbeck2, Reid Wilkins3
1Department of Pathology, NYU Langone Health and Grossman School of Medicine, New York, New York; Laura and Isaac Perlmutter Cancer Center, New York, New York.
The Journal of Molecular Diagnostics : JMD
|July 30, 2026
Summary
Whole genome sequencing of cell-free DNA (ctDNA) can predict recurrence in early-stage lung adenocarcinoma (LUAD). This sensitive liquid biopsy method identifies patients likely to recur, offering a significant lead time for intervention.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Lung adenocarcinoma (LUAD) is a major cause of cancer mortality.
- While surgery can be curative for Stage IA LUAD, recurrence remains a concern.
- The utility of liquid biopsy for monitoring minimal residual disease (MRD) in Stage IA LUAD is not well-established.
Purpose of the Study:
- To evaluate the prognostic value of genome-wide, tumor-informed minimal residual disease (MRD) monitoring using whole genome sequencing (WGS) of circulating tumor DNA (ctDNA) in Stage IA non-small cell lung cancer (NSCLC).
Main Methods:
- Whole genome sequencing (WGS) was performed on tumor, germline DNA, and plasma ctDNA from 42 Stage IA NSCLC patients.
- Patient-specific mutational signatures were derived from tumor-normal comparisons.
- An AI-supported pattern recognition algorithm applied WGS-derived signatures to ctDNA for MRD detection.
Main Results:
- WGS ctDNA analysis predicted recurrence with 75% sensitivity and 83% specificity.
- A median lead time of 16.7 months was observed compared to clinical or imaging recurrence detection.
- ctDNA WGS successfully differentiated between second primary tumors and recurrence in complex cases.
Conclusions:
- Genome-wide, tumor-informed ctDNA WGS is a highly sensitive method for predicting recurrence in Stage IA NSCLC.
- This approach can identify patients at high risk of recurrence, potentially guiding adjuvant therapy and radiological follow-up.
- Liquid biopsy using WGS ctDNA offers prognostic value in the earliest stages of NSCLC.
