Reply to Kawasaki et al. Comment on "Manole et al. Primary Pericardial Synovial Sarcoma: A Case Report and Literature Review. Diagnostics 2022, 12 , 158"
The translocation involves a fusion between one of the SSX genes (SSX1, SSX2, or SSX4) and the SS18 gene (SYT), with the fusion protein participating in the formation of the SWI/SNF and Polycomb complexes, playing a role in epigenetic gene regulation. In the described patient, the negative FISH test...
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Veröffentlicht in: | Diagnostics (Basel) 2024-05, Vol.14 (10), p.1013 |
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Sprache: | eng |
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Zusammenfassung: | The translocation involves a fusion between one of the SSX genes (SSX1, SSX2, or SSX4) and the SS18 gene (SYT), with the fusion protein participating in the formation of the SWI/SNF and Polycomb complexes, playing a role in epigenetic gene regulation. In the described patient, the negative FISH test for this translocation did not allow for a clear differential diagnosis. [...]BCL-2 analysis was subsequently performed. The use of gene expression studies (RNAseq) is becoming useful for understanding the epigenetic mechanisms underlying synovial sarcoma and its prognosis and aggressiveness [4]. [...]we reiterate the significance of imaging in achieving an accurate diagnosis, particularly concerning the precise localization of pericardial tumors, including those of uncommon occurrence. |
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ISSN: | 2075-4418 2075-4418 |
DOI: | 10.3390/diagnostics14101013 |