ArticleClinical sarcoma research2019
Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype.
Article in Clinical sarcoma research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 68 citations in OpenAlex.
- Nodular Necrotizing Fibroblastic Sarcoma and Myxoinflammatory Fibroblastic Sarcoma: A Comparative Clinicopathological, Molecular, and Epigenetic Study.Genes, chromosomes & cancer · 2026Article
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Misdiagnosed undifferentiated pleomorphic sarcoma of the right lower leg mimicking atypical fibroxanthoma: a case report and literature review.Frontiers in oncology · 2026Article
- Undifferentiated melanoma: a molecular study of a fatal metastatic "atypical fibroxanthoma (AFX)".Virchows Archiv : an international journal of pathology · 2025Article
- Review
- Single-cell and spatial transcriptomics identify COL6A3 as a prognostic biomarker in undifferentiated pleomorphic sarcoma.Molecular cancer · 2024Article
- Intracranial pleomorphic liposarcoma misclassified as a pleomorphic xanthoastrocytoma by a DNA methylation classifier: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Proteomic analysis of pleomorphic dermal sarcoma reveals a fibroblastic cell of origin and distinct immune evasion mechanisms.Scientific reports · 2024Article
- Head and neck cancer of unknown primary: unveiling primary tumor sites through machine learning on DNA methylation profiles.Clinical epigenetics · 2024Article
- Sarcoma classification by DNA methylation profiling in clinical everyday life: the Charité experience.Clinical epigenetics · 2022Article
- Article
- Current and Emerging Therapeutic Approaches for Extracranial Malignant Rhabdoid Tumors.Cancer management and research · 2022Review
- Immune checkpoint inhibitors for unresectable or metastatic pleomorphic dermal sarcomas.Frontiers in oncology · 2022Review
- Hemato-Oncological Diseases as Risk Factor for Recurrence or Metastasis of Pleomorphic Dermal Sarcoma.Frontiers in oncology · 2022Article
- Intimal sarcomas and undifferentiated cardiac sarcomas carry mutually exclusive MDM2, MDM4, and CDK6 amplifications and share a common DNA methylation signature.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Article
- Tumor DNA methylation profiles correlate with response to anti-PD-1 immune checkpoint inhibitor monotherapy in sarcoma patients.Journal for immunotherapy of cancer · 2021Article
- Soft Tissue Special Issue: Cutaneous Pleomorphic Spindle Cell Tumors.Head and neck pathology · 2020Review
- Sclerosing epithelioid mesenchymal neoplasm of the pancreas - a proposed new entity.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
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Authors and funding
17 authors at 11 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAtypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are lesions of the skin with overlapping histologic features and unspecific molecular traits. PDS behaves aggressive compared to AFX. Thus, a precise delineation, although challenging in some instances, is relevant.
methodsWe examined the value of DNA-methylation profiling and copy number analysis for separating these tumors. DNA-methylation data were generated from 17 AFX and 15 PDS using the Illumina EPIC array. These were compared with DNA-methylation data generated from 196 tumors encompassing potential histologic mimics like cutaneous squamous carcinomas (cSCC; n = 19), basal cell carcinomas (n = 10), melanoma metastases originating from the skin (n = 11), leiomyosarcomas (n = 11), angiosarcomas of the skin and soft tissue (n = 11), malignant peripheral nerve sheath tumors (n = 19), dermatofibrosarcomas protuberans (n = 13), extraskeletal myxoid chondrosarcomas (n = 9), myxoid liposarcomas (n = 14), schwannomas (n = 10), neurofibromas (n = 21), alveolar (n = 19) and embryonal (n = 17) rhabdomyosarcomas as well as undifferentiated pleomorphic sarcomas (n = 12).
resultsDNA-methylation profiling did not separate AFX from PDS. The DNA-methylation profiles of the other cases, however, were distinct from AFX/PDS. They reliably assigned to subtype-specific DNA-methylation clusters, although overlap occurred between some AFX/PDS and cSCC. Copy number profiling revealed alterations in a similar frequency and distribution between AFX and PDS. They involved losses of 9p (22/32) and 13q (25/32). Gains frequently involved 8q (8/32). Notably, a homozygous deletion of
conclusionsOur findings support the concept that AFX and PDS belong to a common tumor spectrum. We could demonstrate the diagnostic value of DNA-methylation profiling to delineating AFX/PDS from potential mimics. However, the assessment of certain histologic features remains crucial for separating PDS from AFX.
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