ArticleGenes, chromosomes & cancer2020
Novel SS18-NEDD4 gene fusion in a primary renal synovial sarcoma.
Article in Genes, chromosomes & cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Synovial sarcoma of the stomach: a case report and a systematic review of literature.Clinical journal of gastroenterology · 2021Pooled it
- Synovial Sarcoma: Molecular Biology, Pathology, and Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Molecular Profiling ofJournal of personalized medicine · 2025Article
- Synovial Sarcoma of the Kidney: Diagnostic Pitfalls in a Case with Myxoid Monophasic Differentiation and No Epithelial Biomarkers Expression.International journal of molecular sciences · 2024Article
- Biphasic synovial sarcoma with myoepithelial features: a distinctive variant with a predilection for the foot.Virchows Archiv : an international journal of pathology · 2024Article
- Aberrant gene activation in synovial sarcoma relies on SSX specificity and increased PRC1.1 stability.Nature structural & molecular biology · 2023Article
- An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior.Genes, chromosomes & cancer · 2022Article
- Identification of novel SSX1 fusions in synovial sarcoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Correlating SS18-SSX immunohistochemistry (IHC) with SS18 fluorescent in situ hybridization (FISH) in synovial sarcomas: a study of 36 cases.Virchows Archiv : an international journal of pathology · 2021Article
- Sarcomas with sclerotic epithelioid phenotype harboring novel EWSR1-SSX1 fusions.Genes, chromosomes & cancer · 2021Article
- Pediatric onco-nephrology: time to spread the word : Part I: early kidney involvement in children with malignancy.Pediatric nephrology (Berlin, Germany) · 2021Article
- Undifferentiated round cell sarcomas with novel SS18-POU5F1 fusions.Genes, chromosomes & cancer · 2020Article
- MDM2 amplification and fusion gene ss18-ssx in a poorly differentiated synovial sarcoma: A rare but puzzling conjunction.Neoplasia (New York, N.Y.) · 2020Article
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
We report a primary renal synovial sarcoma with a novel gene fusion and unusual morphology. The patient was a 35-year-old female who was found to have a 5 cm hypocellular, myxoid spindle cell renal neoplasm that subtly permeated amongst native renal tubules. The tumor cells showed elongated hyperchromatic nuclei with ill-defined pale cytoplasm, lacking significant mitotic activity or necrosis. Based on its deceptively bland morphology, the differential diagnosis included mainly benign entities, such as metanephric stromal tumor, mixed epithelial stromal tumor (MEST), and myxoid peripheral nerve sheath tumors. A definitive diagnosis of synovial sarcoma was made only subsequently to RNA-sequencing, which revealed a novel SS18-NEDD4 gene fusion. These results were further confirmed by fluorescence in situ hybridization using custom design break-apart probes for both genes. This case illustrates the utility of targeted RNA-sequencing in the classification of challenging tumors with deceptive morphology and identification of novel gene fusion variants. Apart from the canonical SS18-SSX fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the SS18L1-SSX1 fusion.
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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.