ArticleGenes, chromosomes & cancer2012
High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.
Article in Genes, chromosomes & cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 1 of them a synthesis that pooled it.
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Who cites it
138 citing papers in PubMed, 1 synthesis or guideline pooled it, 354 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
- Undifferentiated small round cell tumor of the oral cavity with non-contributory immunohistochemistry: a diagnostic pitfall.Medical molecular morphology · 2026Article
- Dural CIC::DUX4 sarcoma presenting with intracranial hemorrhage at both initial diagnosis and recurrence: a case report and literature review.Brain tumor pathology · 2026Article
- Next-Generation Sequencing Refines Diagnosis and Expands Precision Medicine Opportunities in Soft Tissue Sarcomas.International journal of molecular sciences · 2026Article
- Article
- A primary subcutaneous sarcoma with ATXN1::DUX4 fusion: the first report in soft tissue and further evidence for a CIC/ATXN1 pathway-altered sarcoma family.Virchows Archiv : an international journal of pathology · 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
- Development and verification of a comprehensive diagnostic model for osteosarcoma using random forest and artificial neural network.Discover oncology · 2026Article
- Modeling CIC::DUX4 sarcoma reveals oncogene-mediated MHCI-dependent immune evasion.Molecular cancer · 2025Article
- Targeting developmental vulnerabilities in childhood sarcomas.Cancer metastasis reviews · 2025Review
- Article
- CIC::DUX4 Sarcoma With Preferentially Expressed Antigen in Melanoma (PRAME) Immunopositivity.Cureus · 2025Article
- Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.Journal of cutaneous pathology · 2025Review
- Primary capicua transcriptional repressor-rearranged sarcoma in the thyroid gland with cervical lymph node and lung metastases: a case report and literature review.Discover oncology · 2025Article
- CIC-DUX4 Sarcoma of the Skin: A Rare Case Report and Literature Review.Journal of cutaneous pathology · 2025Review
- 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
- A Chemotherapy Responsive Ewing Sarcoma Case Report With a Rare FUS::FLI1 Fusion.Case reports in pathology · 2025Article
- Undifferentiated small round cell sarcomas in the retroperitoneal space in a 12-year-old female: a rare case report.Frontiers in pediatrics · 2025Article
- Primary ovarian CIC-rearranged sarcoma in a child: a rare case report and review of the literature.Frontiers in medicine · 2025Article
78 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Primitive round cell sarcomas of childhood and young adults have been problematic to diagnose and classify. Our goal was to investigate the pathologic and molecular characteristics of small blue round cell tumors (SBRCT) that remained unclassified after exhaustive immunohistochemistry and molecular screening to exclude known sarcoma-related translocations. As rare examples of EWSR1-negative SBRCT have been shown to carry rearrangements for FUS and CIC genes, we undertook a systematic screening for these two genes. CIC rearrangements by FISH were detected in 15/22 (68%), while none showed FUS abnormalities. RACE, RT-PCR, and/or long-range DNA PCR performed in two cases with frozen material showed that CIC was fused to copies of the DUX4 gene on either 4q35 or 10q26.3. Subsequent FISH analysis confirmed fused signals of CIC with either 4q35 or 10q26.3 region in six cases each. Tumors positive for CIC-DUX4 fusion occurred mainly in male young adult patients (median age: 29 years), with the extremities being the most frequent location. Microscopically, tumors displayed a primitive, round to oval cell morphology with prominent nucleoli, high mitotic count, and areas of necrosis. O13 expression was variable, being either diffuse or patchy and tumors mostly lacked other markers of differentiation. Although CIC-DUX4 resulting in a t(4;19) translocation has been previously described in primitive sarcomas, this is the first report implicating the related DUX4 on 10q26 in oncogenesis. These results suggest the possibility of a newly defined subgroup of primitive round cell sarcomas characterized by CIC rearrangements, distinct from Ewing sarcoma family of tumors.
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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.