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Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
Published on: June 27, 2020
Clear cell sarcoma expressing a novel chimerical transcript EWSR1 exon 7/ATF1 exon 6
Egle Gineikiene1, Dmitrij Seinin, Birute Brasiuniene
1Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Klinikos, Santariskiu 2, Vilnius 08661, Lithuania.
Virchows Archiv : an International Journal of Pathology
|August 14, 2012
Summary
Researchers identified a new EWSR1/ATF1 gene fusion in clear cell sarcoma, a rare cancer. This discovery adds to the known genetic variations in this sarcoma type, aiding future research and diagnosis.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Clear cell sarcoma is characterized by recurrent translocations, primarily EWSR1/ATF1 or EWSR1/CREB1 fusions.
- Three in-frame EWSR1/ATF1 fusion types have been previously identified, encoding functional proteins.
Observation:
- A tumor near the hallux of the right foot was analyzed using reverse transcription-polymerase chain reaction.
- Sequencing revealed a novel chimeric transcript.
Findings:
- The identified transcript represents an in-frame fusion between EWSR1 exon 7 and ATF1 exon 6.
- This constitutes the fourth in-frame type of EWSR1/ATF1 fusion discovered in clear cell sarcomas.
Implications:
- This finding expands the known spectrum of genetic alterations in clear cell sarcoma.
- Contributes to a deeper understanding of sarcoma molecular pathology.
- May inform diagnostic approaches and targeted therapy development for clear cell sarcoma.
