ArticleTumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine2012
Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases.
Article in Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 36 citations in OpenAlex.
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- Spindle cell thymoma and its histological mimickers.Mediastinum (Hong Kong, China) · 2023Review
- miRNAs as Biomarkers and Possible Therapeutic Strategies in Synovial Sarcoma.Frontiers in pharmacology · 2022Review
- Integrative analysis of synovial sarcoma transcriptome reveals different types of transcriptomic changes.Frontiers in genetics · 2022Article
- The Biology of Synovial Sarcoma: State-of-the-Art and Future Perspectives.Current treatment options in oncology · 2021Review
- Primary Intraosseous Synovial Sarcoma in the Mandible.Case reports in oncological medicine · 2021Article
- A rare case of synovial sarcoma presenting as abdominal pain.Clinical case reports · 2020Article
- Review
- Intraneural synovial sarcoma of the tibial nerve.Rare tumors · 2018Article
- Detailed analysis of a superficial CD34-positive fibroblastic tumor: A case report and review of the literature.Oncology letters · 2017Article
- BCOR upregulation in a poorly differentiated synovial sarcoma with SS18L1-SSX1 fusion-A pathologic and molecular pitfall.Genes, chromosomes & cancer · 2017Article
- Primary monophasic synovial sarcoma of the kidney: a case report and review of literature.Clinical Medicine Insights. Oncology · 2013Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Synovial sarcoma (SS) is an aggressive type of tumor, comprising approximately 10 % of soft tissue sarcomas. Over 90 % of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of oncogenic SS18-SSX1 or SS18-SSX2 fusions. In a typical SS18-SSX fusion transcript, exon 10 of SS18 is fused to exon 6 of SSX1/2. However, several variant fusion transcripts have been already described. In the present study, we examined the fusion transcript type in a series of 40 primary untreated SS tumor specimens using reverse transcription polymerase chain reaction and fluorescence in situ hybridization assay. We detected SS18-SSX1 transcript in 22 (55 %) patients and SS18-SSX2 transcript in 17 (42.5 %) patients, while in one patient, none of SS18-SSX1/2 fusion transcripts were identified. Among the cases under study, two tumors carried novel SS18-SSX1 and SS18-SSX2 variant translocations that were allegedly created by an alternative splicing, and in additional case, an unusual translocation variant previously described by other group was found. Our data suggest that alternative splicing may play an important role in novel fusion transcript formation, and additionally we show that it may be a recurrent event in SS. Furthermore, we describe the first case of a complex rearrangement possibly linking SS to REPS2 gene.
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