ArticleThe Journal of molecular diagnostics : JMD2007
Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV.
Article in The Journal of molecular diagnostics : JMD, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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55 citing papers in PubMed, 1 synthesis or guideline pooled it, 156 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
- A Practical Compass to Biological Digital Resources and Omics Integration in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Armoring STEAP1 CAR T cells with IL-18 potentiates antitumor activity in Ewing sarcoma.bioRxiv : the preprint server for biology · 2025Article
- High Expression of miR-218-5p in the Peripheral Blood Stream and Tumor Tissues of Pediatric Patients with Sarcomas.Biochemical genetics · 2025Article
- Bilateral primary ovarian Ewing sarcoma recurring as left submandibular lymphadenopathy diagnosed on cytology.Autopsy & case reports · 2024Article
- FUS regulates the alternative splicing of cell proliferation genes related to atherosclerosis.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- Ewing sarcoma from molecular biology to the clinic.Frontiers in cell and developmental biology · 2023Review
- Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.Virchows Archiv : an international journal of pathology · 2022Article
- Prospective Clinical Genomic Profiling of Ewing Sarcoma:JCO precision oncology · 2022Article
- Establishment of multiplex RT-PCR to detect fusion genes for the diagnosis of Ewing sarcoma.Diagnostic pathology · 2021Article
- Identification of a NovelMolecular cancer research : MCR · 2021Article
- Primitive neuroectodermal tumor of the pericardium: a case report and literature review.BMC cardiovascular disorders · 2021Review
- Radiological and pathological diagnosis of an incidental Askin tumor.Radiology case reports · 2021Article
- Molecular Approaches to Diagnosis in Ewing Sarcoma: Fluorescence In Situ Hybridization (FISH).Methods in molecular biology (Clifton, N.J.) · 2021Article
- Molecular Approaches to Diagnosis in Ewing Sarcoma: RT-PCR.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Ewing sarcoma with FEV gene rearrangements is a rare subset with predilection for extraskeletal locations and aggressive behavior.Genes, chromosomes & cancer · 2020Article
- Review
- High Specificity of BCL11B and GLG1 for EWSR1-FLI1 and EWSR1-ERG Positive Ewing Sarcoma.Cancers · 2020Article
- [Malignant round cell tumors : The Ewing sarcoma and beyond].Der Pathologe · 2020Review
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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
Ewing family tumors are molecularly characterized by expression of chimeric transcripts generated by specific chromosomal translocations, most commonly involving fusion of the EWS gene to a member of the ETS family of transcription factors (including FLI1, ERG, ETV1, E1AF, and FEV). Approximately 85% of reported cases of Ewing sarcoma bear an EWS-FLI1 fusion. In rare cases, FUS can substitute for EWS, with translocation t(16;21)(p11;q24) producing a FUS-ERG fusion with no EWS rearrangement. We report a case of Ewing sarcoma, presenting as a pathological fracture of the distal clavicle in a 33-year-old male, in which cytogenetic analysis revealed a single t(2;16)(q35;p11) balanced translocation. Fluorescence in situ hybridization using a commercially available diagnostic probe was negative for an EWS gene rearrangement; instead, break-apart fluorescence in situ hybridization probes for FUS and FEV were positive for a translocation involving these genes. Cloning and sequencing of the breakpoint region demonstrated an in-frame fusion of FUS to FEV. In conclusion, this represents the first reported case of Ewing family tumors demonstrating a variant translocation involving FUS and FEV and highlights the need to consider alternative permutations of fusion partners for molecular diagnosis of sarcomas.
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