ArticleThe journal of pathology. Clinical research2021
DNA methylation-based profiling of bone and soft tissue tumours: a validation study of the 'DKFZ Sarcoma Classifier'.
Article in The journal of pathology. Clinical research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed.
- Pleomorphism in Soft Tissue Sarcomas: Molecular Characteristics and Clinical Features.Medical sciences (Basel, Switzerland) · 2026Review
- Methylation profiling in CNS tumor diagnostics: a single-centre real-world experience from Central Europe.Virchows Archiv : an international journal of pathology · 2026Article
- Nano-RAPID: Integrated Diagnosis for Sarcoma Using a Nanopore Sequencer.Genes, chromosomes & cancer · 2026Article
- Accurate Prediction of Central Conventional Chondrosarcoma Risk and Outcome Using Methylation Profiling: CHROME.Genes, chromosomes & cancer · 2026Article
- Radiotherapy Response Prediction in Myxofibrosarcomas and Undifferentiated Soft Tissue Sarcomas Using DNA Methylation and Copy Number Profiling.International journal of surgical pathology · 2026Article
- Clinical utility of sarcoma methylation classifiers in soft tissue sarcoma diagnosis.Journal of cancer research and clinical oncology · 2026Article
- Transcriptomic Subgroups in Soft Tissue Tumors Correlate with Morphologic Subtype, Genomic Features, and Outcome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- From Histology to Multi-Omics: Review of Chordoma Classification and Its Clinical Implications.Cells · 2026Review
- CRTC1::TRIM11 Cutaneous Tumors With Atypia: Melanoma Mimicry, Aggressive Potential, and Methylation Classifier Limitations.Genes, chromosomes & cancer · 2026Article
- Low-Grade Fibro-Osseous Lesions With Isolated Chromosome 12 Chromothripsis: A Distinct Entity Or a Low-Grade Central Osteosarcoma With a Novel Driver?Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- The Role of DNA Methylation in Osteosarcoma Pathogenesis and Therapy.OncoTargets and therapy · 2026Review
- Clinicopathologic and Molecular Genetic Features of Spindle Cell Rhabdomyosarcoma Harboring ZFP64::NCOA2/3 Fusions: A Series of 14 Cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- The diagnostic landscape of bone and soft tissue sarcoma: the pan-sarcoma era and AI-driven classification.The journal of pathology. Clinical research · 2025Article
- Use of DNA Methylation Profiling as a Molecular Classification Tool for Paediatric Central Nervous System Tumours: A Middle-Income Country Population-Based Study.Neuropathology and applied neurobiology · 2025Article
- The DNA methylation landscape of musculoskeletal sarcomas.Exploration of targeted anti-tumor therapy · 2025Review
- The utility of DNA methylation profiling in the diagnosis of un-, de- and trans-differentiated melanoma: a series of 11 cases.Histopathology · 2025Article
- Case Report: Pituitary metastasis from prostate adenocarcinoma: an integrated diagnosis viaFrontiers in medicine · 2025Article
- Two Cases of Intraocular Undifferentiated Pleomorphic Sarcoma.Ocular oncology and pathology · 2024Article
- Classification of pediatric soft and bone sarcomas using DNA methylation-based profiling.BMC cancer · 2024Article
- Intracranial pleomorphic liposarcoma misclassified as a pleomorphic xanthoastrocytoma by a DNA methylation classifier: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
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Authors and funding
15 authors.
Funding
Abstract
Diagnosing bone and soft tissue neoplasms remains challenging because of the large number of subtypes, many of which lack diagnostic biomarkers. DNA methylation profiles have proven to be a reliable basis for the classification of brain tumours and, following this success, a DNA methylation-based sarcoma classification tool from the Deutsches Krebsforschungszentrum (DKFZ) in Heidelberg has been developed. In this study, we assessed the performance of their classifier on DNA methylation profiles of an independent data set of 986 bone and soft tissue tumours and controls. We found that the 'DKFZ Sarcoma Classifier' was able to produce a diagnostic prediction for 55% of the 986 samples, with 83% of these predictions concordant with the histological diagnosis. On limiting the validation to the 820 cases with histological diagnoses for which the DKFZ Classifier was trained, 61% of cases received a prediction, and the histological diagnosis was concordant with the predicted methylation class in 88% of these cases, findings comparable to those reported in the DKFZ Classifier paper. The classifier performed best when diagnosing mesenchymal chondrosarcomas (CHSs, 88% sensitivity), chordomas (85% sensitivity), and fibrous dysplasia (83% sensitivity). Amongst the subtypes least often classified correctly were clear cell CHSs (14% sensitivity), malignant peripheral nerve sheath tumours (27% sensitivity), and pleomorphic liposarcomas (29% sensitivity). The classifier predictions resulted in revision of the histological diagnosis in six of our cases. We observed that, although a higher tumour purity resulted in a greater likelihood of a prediction being made, it did not correlate with classifier accuracy. Our results show that the DKFZ Classifier represents a powerful research tool for exploring the pathogenesis of sarcoma; with refinement, it has the potential to be a valuable diagnostic tool.
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