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May 29, 2026Journal of Clinical Oncology

Development and validation of a multidimensional cfDNA assay for cancer detection and tissue-of-origin prediction.

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Authors

HBHua BaoGenesee Community CollegeXCXiaoxi ChenGenesee Community CollegeHTHaimeng TangGenesee Community College

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Overview

Randomized trial shows effective cancer detection and tissue-of-origin prediction using cfDNA assay, indicating potential for early diagnosis.

Key Points

  • This research aims to develop and validate a multidimensional assay for early cancer detection and tissue-of-origin localization using circulating cell-free DNA.
  • Multicenter, prospective case-control study
  • Analysis of plasma samples using low-pass whole-genome sequencing (WGS) to extract cfDNA features
  • Training machine learning models on data from 3,577 healthy and 3,578 cancer participants with validation in an independent set of 2,384 healthy and 2,386 cancer participants.
  • At 99% specificity, sensitivity for cancer detection was highest at Stage IV (91.76%) and lowest for Thyroid tumor (57.43%)
  • High accuracy in predicting tissue-of-origin with Top-1 and Top-2 accuracy rates of 0.75 and 0.89 respectively in training, and 0.75 and 0.88 in validation.
  • Performance remained consistent across training and validation cohorts.

Cite This Study

Bao et al. (2026) studied this question.

synapsesocial.com/papers/6a192de6fab5b468c4416cfchttps://doi.org/10.1200/jco.2026.44.16_suppl.10531
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Abstract 1123: Machine learning classifier for cancer type identification via multi-feature genome-wide cfDNA profiling2026
  2. 2Abstract 1124: cfDNA fragmentomics enables sensitive early detection and tissue-of-origin prediction in gynecologic cancers2026
  3. 3Abstract 1266: Development and performance of a multi-cancer early detection test utilizing plasma cfDNA fragmentomics: A large-scale, prospective, multicenter study2024 · 1 citations
  4. 4Multi-cancer early detection (MCED) in circulating tumor DNA (ctDNA) using an ultrasensitive mutation-based amplicon next-generation sequencing (NGS) assay.2024 · 1 citations
  5. 5Integrative cfDNA profiling from low-pass whole-genome sequencing enables tissue-of-origin prediction in cancer2026