ArticleThe American journal of surgical pathology2018
Novel EWSR1-SMAD3 Gene Fusions in a Group of Acral Fibroblastic Spindle Cell Neoplasms.
Article in The American journal of surgical pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 68 citations in OpenAlex.
- Cutaneous basaloid neoplasms with epithelial differentiation and EWSR1-fusions: a series of four cases.Virchows Archiv : an international journal of pathology · 2026Article
- EWSR1-SMAD3-rearranged fibroblastic tumor: a case report with literature review.Medical molecular morphology · 2026Article
- Gene fusion-driven cutaneous mesenchymal neoplasms: An updated review emphasizing the emerging entities.Virchows Archiv : an international journal of pathology · 2026Review
- EWSR1::BEND2 fusion sarcoma in bone: a report of two rare cases.Virchows Archiv : an international journal of pathology · 2025Article
- Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms.Virchows Archiv : an international journal of pathology · 2024Review
- The 2023 WHO updates on skin tumors: advances since the 2018 edition.Pathologica · 2024Review
- Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.Histopathology · 2023Article
- Feasibility and Toxicity of Interval-Compressed Chemotherapy in Asian Children and Young Adults with Sarcoma.Journal of personalized medicine · 2023Article
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- A novel EWSR1-HOXB13 rearrangement in a fibroblastic tumor from the abdomen of a young woman.Virchows Archiv : an international journal of pathology · 2022Article
- Ewing sarcoma and related FET family translocation-associated round cell tumors: A century of clinical and scientific progress.Genes, chromosomes & cancer · 2022Article
- WHO Pathology: Highlights of the 2020 Sarcoma Update.Surgical oncology clinics of North America · 2022Review
- Malignant Superficial Mesenchymal Tumors in Children.Cancers · 2022Review
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- EWSR1-SMAD3 fibroblastic tumour of bone: expanding the clinical spectrum.Skeletal radiology · 2021Article
- Sarcoma and the 100,000 Genomes Project: our experience and changes to practice.The journal of pathology. Clinical research · 2020Article
- How Technology Is Improving the Multidisciplinary Care of Sarcoma.American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting · 2020Review
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
Benign/low-grade fibroblastic tumors encompass a broad spectrum of tumors with different morphologies and molecular genetic abnormalities. However, despite significant progress in recent genomic characterization, there are still tumors in this histologic spectrum that are difficult to classify, lacking known molecular characteristics. Triggered by a challenging congenital spindle cell neoplasm arising in the heel of a 1-year-old boy, we applied RNA sequencing for genetic discovery and identified a novel EWSR1-SMAD3 gene fusion. On the basis of the index case superficial acral location and fibroblastic appearance with a nonspecific immunophenotype, we searched our files for similar cases and screened them by fluorescence in situ hybridization for these abnormalities. Thus an identical EWSR1-SMAD3 fusion was identified in 2 additional spindle cell tumors with similar clinicopathologic features. Both cases occurred in the feet of adult women (58 and 61 y old) and were characterized by distinctive nodular growth with zonation pattern of peripheral hypercellular areas arranged in short fascicles, transitioning to hypocellular central areas of hyalinization and infarction. Focal stippled calcification in the collagenous area was present in 1 case. All 3 tumors had similar immunoprofiles, being negative for SMA, CD34, CD31, and S100, but showing consistent ERG positivity of uncertain significance. Follow-up information was available in 2 patients who developed local recurrences after incomplete initial excisions, at 5 and 14 months, respectively. None developed metastatic disease. In summary, we report a group of locally recurrent superficial acral tumors, characterized by bland spindle cell fascicular growth, occasional zonation pattern, ERG positivity, and recurrent EWSR1-SMAD3 gene fusions.
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Registered trials
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