ArticleJournal of cancer research and clinical oncology2019
DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma.
Article in Journal of cancer research and clinical oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 63 citations in OpenAlex.
- Rare Presentations and the Management of Cases of Ewing's Sarcoma - In a Tertiary Care Centre of Mangalore.Annals of African medicine · 2026Article
- Primary pulmonary NFATC2::NUTM2-associated myoepithelial-like neoplasms: two hi-C-detected cases beyond routine targeted NGS and review of the literature.Virchows Archiv : an international journal of pathology · 2026Review
- Clinical utility of sarcoma methylation classifiers in soft tissue sarcoma diagnosis.Journal of cancer research and clinical oncology · 2026Article
- The Role of DNA Methylation in Osteosarcoma Pathogenesis and Therapy.OncoTargets and therapy · 2026Review
- Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms.Virchows Archiv : an international journal of pathology · 2025Article
- Clinicopathologic and proteomic characteristics of low-grade undifferentiated spindle cell sarcoma.Frontiers in molecular biosciences · 2025Article
- Review
- Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma.Journal of cutaneous pathology · 2024Article
- Translational Aspects of Epithelioid Sarcoma: Current Consensus.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- The diagnostic utility of cytology specimen in a case of EWSR1::NFATC2 sarcoma.Virchows Archiv : an international journal of pathology · 2024Article
- Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1).Surgical pathology clinics · 2024Review
- Identification of Novel/RareInternational journal of molecular sciences · 2024Article
- Report and literature review of four cases of EWSR1::NFATC2 round cell sarcoma.Diagnostic pathology · 2024Review
- Activity of pazopanib inOncoscience · 2023Article
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- Implementation of Copy Number Variations-Based Diagnostics in Morphologically ChallengingInternational journal of molecular sciences · 2022Article
- Systematic multi-omics cell line profiling uncovers principles of Ewing sarcoma fusion oncogene-mediated gene regulation.Cell reports · 2022Article
- Identification of Factors Driving Doxorubicin-Resistant Ewing Tumor Cells to Survival.Cancers · 2022Article
- Small round cell sarcomas.Nature reviews. Disease primers · 2022Review
- mRNA Capture Sequencing and RT-qPCR for the Detection of Pathognomonic, Novel, and Secondary Fusion Transcripts in FFPE Tissue: A Sarcoma Showcase.International journal of molecular sciences · 2022Article
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Authors and funding
21 authors at 11 institutions in 5 countries.
Funding
Abstract
purposeRecent studies revealed divergent gene expression patterns in Ewing sarcoma (EwS) with canonical EWSR1-ETS gene fusions and undifferentiated round cell sarcomas (URCS) with EWSR1 rearrangements fused to the non-ETS gene NFATc2. Thus, the question arises whether the latter tumors really belong to EwS.
methodsWe collected five cases matching the group of URCS with EWSR1-NFATc2 fusion and performed DNA methylation and copy number profiling. Results were compared to methylation data of 30 EwS with various EWSR1-ETS fusions and one EwS with FUS-ERG fusion, 16 URCS with CIC rearrangement and 10 URCS with BCOR alteration and a total of 81 EWSR1-associated soft tissue sarcomas including 7 angiomatoid fibrous histiocytomas, 7 clear cell sarcomas of the soft tissue, 28 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas and 29 myxoid liposarcomas.
resultsUnsupervised hierarchical clustering and t-distributed stochastic neighbor embedding analysis of DNA methylation data revealed a homogeneous methylation cluster for URCS with EWSR1-NFATc2 fusion, which clearly segregated from EwS and the other subtypes. Copy number profiles of EWSR1-NFATc2 cases showed recurrent losses on chromosome 9q and segmental gains on 20q13 and 22q12 involving the EWSR1 and NFATc2 loci, respectively.
conclusionIn summary, URCS with EWSR1-NFATc2 fusion share a distinct DNA methylation signature and carry characteristic copy number alterations, which emphasizes that these sarcomas should be considered separately from EwS.
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