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April 5, 2026Cancer Research

cfDNA Fragmentomics for Early Detection and Tissue-Origin Prediction in Gynecologic Cancers

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Authors

JLJin LiXZX ZhangSWSong Wang

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Overview

Demonstrates enhanced early detection and tissue-origin prediction in gynecologic cancers, suggesting significant clinical implications.

Key Points

  • The aim is to develop cfDNA-based models to enable early detection and classification of tissue-of-origin for gynecologic cancers.
  • Prospective enrollment of 1,007 participants from two hospitals
  • Model development using a training set of 363 participants, integrating four cfDNA features
  • Validation with internal (158 participants) and external (242 participants) test sets
  • Machine learning techniques employed for model training and evaluation
  • Diagnostic models achieved AUC values of 0.974 and 0.975 in internal and external cohorts, respectively
  • Sensitivities of 83.7% and 82.7% at 98% specificity were recorded
  • The model detected over 77% of cancers missed by traditional CA125 tests
  • TOO classification model exhibited over 73% accuracy overall, with highest accuracy in ovarian cancers (81.3-86.7%)

Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/69d1fcfda79560c99a0a2cdchttps://doi.org/10.1158/1538-7445.am2026-1124
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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 1266: Development and performance of a multi-cancer early detection test utilizing plasma cfDNA fragmentomics: A large-scale, prospective, multicenter study2024 · 1 citations
  3. 3Multi-modal liquid biopsy integrating cfDNA fragmentomics and serum biomarkers for the differential diagnosis of ovarian tumors.2026
  4. 4Development and validation of a multidimensional cfDNA assay for cancer detection and tissue-of-origin prediction.2026
  5. 5Abstract 4950: Applying fragmentomics profiles of plasma cell-free DNA for breast cancer detection2024