# Multimodal analysis of methylomics and fragmentomics in plasma cell-free DNA for multi-cancer early detection and localization

Source: https://onco.cc/key-papers/paper-spot-mas-elife-2023/  
OnCo record `paper-spot-mas-elife-2023` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Key paper
- Last checked: 2026-10-29
- Journal: eLife
- Year: 2023
- DOI: 10.7554/eLife.89083
- Authors: Nguyen VTC, Nguyen TH, Doan NNT, et al.
- Findings: 72.4% sensitivity at 97.0% specificity.; Stage I 73.9%, stage II 62.3%.; Tumour-of-origin accuracy 0.7.
- What it means: 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.

## Sources

- eLife 2023: SPOT-MAS: https://doi.org/10.7554/eLife.89083
- PubMed: https://pubmed.ncbi.nlm.nih.gov/37819044/

## Connected records

- fronts: [Early Detection & Screening](https://onco.cc/fronts/early-detection/)
- technologies: [Cell-free DNA methylation tests](https://onco.cc/technologies/cfdna-methylation-testing/), [cfDNA fragmentomics](https://onco.cc/technologies/fragmentomics/), [Multi-cancer early detection (MCED)](https://onco.cc/technologies/mced/)
- drugs: [SPOT-MAS](https://onco.cc/drugs/spot-mas/)
- companies: [Gene Solutions](https://onco.cc/companies/gene-solutions/)
- journals: [eLife](https://onco.cc/journals/elife/)

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