ArticleNature genetics2012
A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 182 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
182 citing papers in PubMed, 1 synthesis or guideline pooled it, 464 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
- Patterns of Translocation Testing in Patients Enrolling in a Cooperative Group Trial for Newly Diagnosed Metastatic Ewing Sarcoma.Archives of pathology & laboratory medicine · 2021Trial
- Molecular Approaches to Diagnosis in Ewing Sarcoma: Fluorescence In Situ Hybridization (FISH).Methods in molecular biology (Clifton, N.J.) · 2027Article
- Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature.Endocrine journal · 2026Review
- Cyclins and Cyclin-Dependent Kinases: Structure, Biological Functions, and Innovative Targeting Strategies in Cancer.MedComm · 2026Review
- Next-Generation Sequencing Refines Diagnosis and Expands Precision Medicine Opportunities in Soft Tissue Sarcomas.International journal of molecular sciences · 2026Article
- Intramuscular Myoepithelioma-Like Hyalinizing Epithelioid Tumor With OGT::FOXO3 Intraexonic DNA Fusion Confirmed by Nanopore Sequencing.Genes, chromosomes & cancer · 2026Article
- BCOR-CCNB3 fusion-positive sarcoma treated with chemotherapy and carbon-ion radiotherapy: a case report of long-term disease control of a cervical spine case with a 12-year follow-up.Frontiers in oncology · 2026Article
- ZC3H7A/B::BCOR fusion fibromyxoid sarcoma of soft tissue: an emerging aggressive sarcoma overlapping with malignant ossifying fibromyxoid tumors.Virchows Archiv : an international journal of pathology · 2025Article
- BCOR::CCNB3 Sarcoma of the Thigh: A Rare Case.Cureus · 2025Article
- Article
- Upregulation of POLE and proficient DNA repair are features of CIC::DUX4 sarcomas.NPJ precision oncology · 2025Article
- Infantile undifferentiated sarcomas: a diagnostic and therapeutic challenge - two case reports and literature review.Acta oncologica (Stockholm, Sweden) · 2025Review
- Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors.Diagnostic pathology · 2025Article
- Fusion oncogenes in rhabdomyosarcoma: model systems, mechanisms of tumorigenesis, and therapeutic implications.Frontiers in oncology · 2025Review
- Clinicopathologic and proteomic characteristics of low-grade undifferentiated spindle cell sarcoma.Frontiers in molecular biosciences · 2025Article
- Primary renal BCOR::CCNB3 sarcoma in a female patient: case report.Journal of pathology and translational medicine · 2025Article
- Bibliometric analysis and visualisation of research hotspots and frontiers on omics in osteosarcoma.Journal of cancer research and clinical oncology · 2024Article
- Amputation surgery associated with shortened survival in patients with localized extremity bone sarcoma.Journal of orthopaedics · 2024Article
- Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing.The Journal of molecular diagnostics : JMD · 2024Article
122 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The identification of subtype-specific translocations has revolutionized the diagnostics of sarcoma and has provided new insight into oncogenesis. We used RNA-seq to investigate samples from individuals diagnosed with small round cell tumors of bone, possibly Ewing sarcoma, but which lacked the canonical EWSR1-ETS translocation. A new fusion was observed between BCOR (encoding the BCL6 co-repressor) and CCNB3 (encoding the testis-specific cyclin B3) on the X chromosome. RNA-seq results were confirmed by RT-PCR and through cloning of the tumor-specific genomic translocation breakpoints. In total, 24 BCOR-CCNB3-positive tumors were identified among a series of 594 sarcoma cases. Gene profiling experiments indicated that BCOR-CCNB3-positive cases are biologically distinct from other sarcomas, particularly Ewing sarcoma. Finally, we show that CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells. Thus, the intrachromosomal X-chromosome fusion described here represents a new subtype of bone sarcoma caused by a newly identified gene fusion mechanism.
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Registered trials
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.