A novel variant of SYT-SSX1 fusion gene in a case of spindle cell synovial sarcoma
Language English Country United States Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
17721327
DOI
10.1097/pdm.0b013e3180340343
PII: 00019606-200709000-00009
Knihovny.cz E-resources
- MeSH
- Chromosome Aberrations MeSH
- Child MeSH
- DNA Primers MeSH
- Fatal Outcome MeSH
- Oncogene Proteins, Fusion genetics MeSH
- Combined Modality Therapy MeSH
- Humans MeSH
- Neoplasm Recurrence, Local pathology therapy MeSH
- Molecular Sequence Data MeSH
- Soft Tissue Neoplasms genetics pathology therapy MeSH
- Lung Neoplasms genetics secondary therapy MeSH
- Reverse Transcriptase Polymerase Chain Reaction MeSH
- Antineoplastic Combined Chemotherapy Protocols therapeutic use MeSH
- Radiotherapy MeSH
- Base Sequence MeSH
- Sarcoma, Synovial genetics secondary therapy MeSH
- Hematopoietic Stem Cell Transplantation MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- DNA Primers MeSH
- Oncogene Proteins, Fusion MeSH
- SYT-SSX fusion protein MeSH Browser
Synovial sarcoma (SS) is a rare soft-tissue tumor that affects children and young adults. It is characterized by chromosomal translocation t(X;18)(p11.2;q11.2), which results in the fusion of the gene SYT on chromosome 18 with SSX genes on chromosome X. Heterogeneity within SS fusion junctions is rare. We report a case of a 9-year-old boy with a high-grade spindle cell sarcoma. Reverse transcriptase-polymerase chain reaction revealed a characteristic translocation of SSs. However, this sarcoma showed a longer-than-expected PCR product after gel electrophoresis. Direct sequencing of the product disclosed a novel SYT/SSX1 fusion transcript. Detection of fusion transcripts is useful for diagnostics of SS. In each case, when considering this diagnosis on the morphologic grounds an attempt to analyze the translocation using PCR should be made, including the recognition of its uncommon variants.
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