ArticleClinical cancer research : an official journal of the American Association for Cancer Research2024
Early Detection of Malignant and Premalignant Peripheral Nerve Tumors Using Cell-Free DNA Fragmentomics.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- SARC031: A Phase II Trial of Selumetinib and Sirolimus for Patients with Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors (MPNST).Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Trial
- Advancing the applications of liquid biopsies in oncology.Nature reviews. Genetics · 2026Review
- Article
- Bacteria mediated tumor therapy recent advances challenges and future perspectives.Discover oncology · 2026Review
- Circulating Tumor DNA in Neurofibromatosis Type 1: Translating Molecular Discovery into Clinical Surveillance.Diagnostics (Basel, Switzerland) · 2026Review
- Innovative approaches for lung cancer screening and interception.Nature reviews. Clinical oncology · 2026Review
- Neurofibromatosis type 1-plexiform neurofibromas: Integrating treatment across pediatric and adult populations.Neuro-oncology · 2026Review
- Ongoing Clinical Challenges in Nerve Surgery (Nerve SPACE 2025).Journal of hand surgery global online · 2026Article
- Review
- The clinical value and application of augmented reality navigation in brachial plexus schwannoma.Scientific reports · 2025Article
- Artificial intelligence-based tools for precision diagnosis and treatment of neurofibromatosis type 1 associated peripheral and central glial tumors.Orphanet journal of rare diseases · 2025Review
- From Combination Early Detection to Multicancer Testing: Shifting Cancer Care toward Proactive Prevention and Interception.Cancer prevention research (Philadelphia, Pa.) · 2025Review
- Integrated Multiclass Driver ctDNA Profiling Enables MPNST Detection and Monitoring in NF1 Patients.Research square · 2025Article
- Single-cell tumor microenvironment profiling informs a circulating proteome test for the interception of malignant transformation in NF1 nerve sheath tumors.Research square · 2025Article
- EM-DeepSD: A Deep Neural Network Model Based on Cell-Free DNA End-Motif Signal Decomposition for Cancer Diagnosis.Diagnostics (Basel, Switzerland) · 2025Article
- Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour.Cancers · 2025Article
- Dynamic profiling of Cell-free DNA fragmentation uncovers postprandial metabolic and immune alterations.Human genomics · 2025Article
- Cell-free DNA fragmentomics: a universal framework for early cancer detection and monitoring.American journal of clinical and experimental immunology · 2025Article
- Liquid Biopsy in the Clinical Management of Cancers.International journal of molecular sciences · 2024Review
- Contemporary Approach to Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors.American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting · 2024Review
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Authors and funding
29 authors.
Funding
Abstract
purposeEarly detection of neurofibromatosis type 1 (NF1)-associated peripheral nerve sheath tumors (PNST) informs clinical decision-making, enabling early definitive treatment and potentially averting deadly outcomes. In this study, we describe a cell-free DNA (cfDNA) fragmentomic approach that distinguishes nonmalignant, premalignant, and malignant forms of PNST in the cancer predisposition syndrome, NF1. EXPERIMENTAL
designcfDNA was isolated from plasma samples of a novel cohort of 101 patients with NF1 and 21 healthy controls and underwent whole-genome sequencing. We investigated diagnosis-specific signatures of copy-number alterations with in silico size selection as well as fragment profiles. Fragmentomics were analyzed using complementary feature types: bin-wise fragment size ratios, end motifs, and fragment non-negative matrix factorization signatures.
resultsThe novel cohort of patients with NF1 validated that our previous cfDNA copy-number alteration-based approach identifies malignant PNST (MPNST) but cannot distinguish between benign and premalignant states. Fragmentomic methods were able to differentiate premalignant states including atypical neurofibromas (AN). Fragmentomics also adjudicated AN cases suspicious for MPNST, correctly diagnosing samples noninvasively, which could have informed clinical management.
conclusionsNovel cfDNA fragmentomic signatures distinguish AN from benign plexiform neurofibromas and MPNST, enabling more precise clinical diagnosis and management. This study pioneers the early detection of malignant and premalignant PNST in NF1 and provides a blueprint for decentralizing noninvasive cancer surveillance in hereditary cancer predisposition syndromes.
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