ArticleThe Journal of molecular diagnostics : JMD2011
Molecular diagnosis in Ewing family tumors: the Rizzoli experience--222 consecutive cases in four years.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46 citing papers in PubMed, 83 citations in OpenAlex.
- Molecular Approaches to Diagnosis in Ewing Sarcoma: RT-PCR.Methods in molecular biology (Clifton, N.J.) · 2027Article
- New cell lines expanding the diversity of Ewing sarcoma models.International journal of cancer · 2026Article
- Molecular Characterization Informs Prognosis in Patients With Localized Ewing Sarcoma: A Report From the Children's Oncology Group.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Targeting developmental vulnerabilities in childhood sarcomas.Cancer metastasis reviews · 2025Review
- Case Report: Pitfalls in anatomic pathology and clinical oncology: a case of misdiagnosed pulmonary Ewing sarcoma as SCLC.Frontiers in oncology · 2025Article
- Primary Chest Wall Ewing Sarcoma: Treatment and Long-Term Results.Life (Basel, Switzerland) · 2024Article
- Askin's Tumor in the Chest Wall-a Rare Clinical Entity and Review of Literature.Indian journal of surgical oncology · 2024Review
- Review
- Difficulties in the management of an Askin tumor in a pediatric patient with cystic fibrosis: case report and literature review.Frontiers in pediatrics · 2023Article
- A challenging diagnosis: Lesson from case series of sacral Ewing sarcoma.International journal of surgery case reports · 2022Article
- Thoracic Ewing's Sarcoma: A Case Report.Cureus · 2022Article
- ETS factors in prostate cancer.Cancer letters · 2022Review
- MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation.Biomarker insights · 2022Article
- Ewing Sarcoma/Primitive Neuroectodermal Tumor Involving the Duodenum.Ochsner journal · 2022Article
- Establishment of multiplex RT-PCR to detect fusion genes for the diagnosis of Ewing sarcoma.Diagnostic pathology · 2021Article
- Molecular mechanisms underpinning sarcomas and implications for current and future therapy.Signal transduction and targeted therapy · 2021Review
- Biology of the mRNA Splicing Machinery and Its Dysregulation in Cancer Providing Therapeutic Opportunities.International journal of molecular sciences · 2021Review
- Rationale for Early Detection ofCancers · 2021Review
- Intron retention is a robust marker of intertumoral heterogeneity in pancreatic ductal adenocarcinoma.NPJ genomic medicine · 2020Article
- Primary Ewing sarcoma/primitive neuroectodermal tumor of the lung.Autopsy & case reports · 2020Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Ewing's family of tumors (EFTs) are characterized by chimeric transcripts generated by specific chromosomal rearrangements. The most common fusions are between the EWSR1 gene on chromosome 22 and the ETS family of transcription factors; rarely, FUS (on chromosome 16) substitutes for EWSR1. The detection of specific translocations using molecular analysis is now a routine part of the pathological examination of EFT. Here, we report our experience with molecular diagnosis of EFT during the 4 years (2006-2009) at the Rizzoli Institute. We analyzed 222 consecutive tumors with a presumptive diagnosis of EFT using molecular techniques and IHC. We found five distinct types of EWSR1-FLI1 fusion transcripts resulting from translocation t(11;22), three types of EWSR1-ERG transcripts resulting from t(21;22), and one type of t(2;22) resulting in EWSR1-FEV fusion. Molecular investigation validated 92% of cases ultimately diagnosed as EFT; IHC validated 76% of the cases. Thus, despite the difficulties and limitations associated with both molecular and IHC analysis on fresh and formalin-fixed, paraffin-embedded tissue, a combination of these techniques is the best approach to enhancing the accuracy of EFT diagnosis. We also present our method for choosing which molecular techniques to apply. Finally, we collected the most prevalent breakpoints reported in the literature, indicating which exons are involved, the sequence breakpoints, and the NCBI reference sequences.
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