ArticleGenes, chromosomes & cancer2014
Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities.
Article in Genes, chromosomes & cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 1 of them a synthesis that pooled it.
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Who cites it
117 citing papers in PubMed, 1 synthesis or guideline pooled it, 240 citations in OpenAlex.
- Ewing sarcoma with ERG gene rearrangements: A molecular study focusing on the prevalence of FUS-ERG and common pitfalls in detecting EWSR1-ERG fusions by FISH.Genes, chromosomes & cancer · 2016Pooled it
- Molecular Approaches to Diagnosis in Ewing Sarcoma: Fluorescence In Situ Hybridization (FISH).Methods in molecular biology (Clifton, N.J.) · 2027Article
- Dural CIC::DUX4 sarcoma presenting with intracranial hemorrhage at both initial diagnosis and recurrence: a case report and literature review.Brain tumor pathology · 2026Article
- Article
- Genetic Profiling of Primary Versus Metastatic Ewing Sarcoma for Therapeutic Target Identification.Life (Basel, Switzerland) · 2026Article
- Clinicopathological features of CIC-rearranged sarcomas: a retrospective study including novel visceral locations and methylation profile analysis.Virchows Archiv : an international journal of pathology · 2026Article
- Superficially located CIC::DUX4-rearranged sarcomas in children: insights from a long-term survival case series.Virchows Archiv : an international journal of pathology · 2026Article
- Modeling CIC::DUX4 sarcoma reveals oncogene-mediated MHCI-dependent immune evasion.Molecular cancer · 2025Article
- The CIC::DUX4 oncoprotein maintains DNA integrity through direct regulation of the catalytic subunit of DNA polymerase epsilon (POLE).Oncogene · 2025Article
- EWS::WT1 Isoform-Dependent Regulation of Neogenes in Desmoplastic Small Round Cell Tumors.bioRxiv : the preprint server for biology · 2025Article
- Article
- Transcriptional repressor Capicua is a gatekeeper of cell-intrinsic interferon responses.Cell host & microbe · 2025Article
- Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.Journal of cutaneous pathology · 2025Review
- 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
- Nuclear DUX4 immunohistochemistry is a highly sensitive and specific marker for the presence of CIC::DUX4 fusion in CIC-rearranged sarcomas: a study of 48 molecularly confirmed cases.Histopathology · 2025Article
- CIC-DUX4 Sarcoma of the Skin: A Rare Case Report and Literature Review.Journal of cutaneous pathology · 2025Review
- Editorial: New strategies for treating fusion-driven sarcomas.Frontiers in cell and developmental biology · 2025Article
- An aggressive gastric CIC-DUX4 sarcoma surgically resected with multivisceral organs: a case report.Surgical case reports · 2024Article
- Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas.Disease models & mechanisms · 2024Review
- Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing.The Journal of molecular diagnostics : JMD · 2024Article
57 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Round cell sarcomas harboring CIC-DUX4 fusions have recently been described as highly aggressive soft tissue tumors of children and young adults. Due to partial morphologic and immunohistochemical overlap with Ewing sarcoma (ES), CIC-DUX4-positive tumors have generally been classified as ES-like and managed similarly; however, a systematic comparison at the molecular and immunohistochemical levels between these two groups has not yet been conducted. Based on an initial observation that CIC-DUX4-positive tumors show nuclear immunoreactivity for WT1 and ETS transcription factors, FLI1 and ERG, we performed a detailed immunohistochemical and molecular analysis including these markers, to further investigate the relationship between CIC-DUX4 tumors and ES. The study group included 21 CIC-DUX4-positive sarcomas and 20 EWSR1-rearranged ES. Immunohistochemically, CIC-DUX4 sarcomas showed membranous CD99 positivity in 18 (86%) cases, but only 5 (24%) with a diffuse pattern, while WT1 and FLI1 were strongly positive in all cases. ERG was positive in 18% of cases. All ES expressed CD99 and FLI1, while ERG positivity was only seen in EWSR1-ERG fusion positive ES. WT1 was negative in all ES. Expression profiling validated by q-PCR revealed a distinct gene signature associated with CIC-DUX4 fusion, with upregulation of ETS transcription factors (ETV4, ETV1, and ETV5) and WT1, among top overexpressed genes compared to ES, other sarcomas and normal tissue. In conclusion, the distinct gene signature and immunoprofile of CIC-DUX4 sarcomas suggest a distinct pathogenesis from ES. The consistent WT1 expression may provide a useful clue in the diagnosis in the context of round cell sarcomas negative for EWSR1 rearrangement. © 2014 Wiley Periodicals, Inc.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.