ArticleGenes, chromosomes & cancer2017
BCOR upregulation in a poorly differentiated synovial sarcoma with SS18L1-SSX1 fusion-A pathologic and molecular pitfall.
Article in Genes, chromosomes & cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Expanding the Clinicopathologic Spectrum of EWSR1::SSX-Rearranged Sarcomas: Series of 11 Cases Including Osteosarcomas and a Novel EWSR1::SSX4 Fusion.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- Spectrum and Clinical Impact of Secondary Genetic Alterations in Translocation-Associated Sarcomas.JCO precision oncology · 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
- Functional Classification of Fusion Proteins in Sarcoma.Cancers · 2024Review
- Aberrant gene activation in synovial sarcoma relies on SSX specificity and increased PRC1.1 stability.Nature structural & molecular biology · 2023Article
- Expanding the spectrum of mesenchymal neoplasms with NR1D1-rearrangement.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
- A potential diagnostic pitfall: Primary synovial sarcoma of the central nervous system.Free neuropathology · 2022Article
- Case Report: Primary Intraosseous Poorly Differentiated Synovial Sarcoma of the Femur.Frontiers in oncology · 2022Article
- Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls.Genes, chromosomes & cancer · 2021Article
- 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
- Undifferentiated round cell sarcomas with novel SS18-POU5F1 fusions.Genes, chromosomes & cancer · 2020Article
- Novel SS18-NEDD4 gene fusion in a primary renal synovial sarcoma.Genes, chromosomes & cancer · 2020Article
- New advances in the molecular classification of pediatric mesenchymal tumors.Genes, chromosomes & cancer · 2019Review
- Array-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Diffuse Strong BCOR Immunoreactivity Is a Sensitive and Specific Marker for Clear Cell Sarcoma of the Kidney (CCSK) in Pediatric Renal Neoplasia.The American journal of surgical pathology · 2018Article
- BCOR-CCNB3 Fusion Positive Sarcomas: A Clinicopathologic and Molecular Analysis of 36 Cases With Comparison to Morphologic Spectrum and Clinical Behavior of Other Round Cell Sarcomas.The American journal of surgical pathology · 2018Article
- Primary Renal Sarcomas With BCOR-CCNB3 Gene Fusion: A Report of 2 Cases Showing Histologic Overlap With Clear Cell Sarcoma of Kidney, Suggesting Further Link Between BCOR-related Sarcomas of the Kidney and Soft Tissues.The American journal of surgical pathology · 2017Article
- Synovial sarcoma mimicking benign peripheral nerve sheath tumor.Skeletal radiology · 2017Article
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here, we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH, which were misinterpreted as a URCS with BCOR gene rearrangements. The tumor had an unusual clinical presentation arising as an intraneural tumor in the ankle of a 29-year-old female. The tumor displayed a mixture of fascicular spindle cells and undifferentiated round cell components. FISH studies showed no SS18 gene abnormality; however, RNA sequencing identified a fusion transcript involving SS18L1 (a paralog gene of SS18 at 20q13.33) and SSX1. Further FISH testing validated rearrangements in SSX1 and SS18L1 genes, in addition to complex structural abnormalities of the Xp11.22-4 region. This is the second reported SS case harboring an SS18L1-SSX1 alternative fusion variant, similarly occurring in association with a large nerve. The lack of SS18 gene rearrangements by FISH corroborated with the BCOR overexpression at both mRNA and protein level may result in diagnostic pitfalls with URCS with BCOR gene abnormalities. Our results further suggest that BCOR upregulation is emerging as a common downstream pathway for SS with either typical SS18-SSX transcript or with rare fusion variants, such as SS18L1-SSX. © 2017 Wiley Periodicals, Inc.
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