Frequency of t(11;22)(q24;q12) in Ewing’s Sarcoma using Fluorescence in Situ Hybridisation Technique

Abstract

Objectives: Ewing’s sarcoma (ES) is a rare and aggressive cancer that primarily affects bone and adjacent soft tissues. It is characterised by the presence of the chromosomal translocation t(11;22)(q24;q12) in approximately 85–90% of cases. This translocation leads to the fusion of the EWSR1 gene on chromosome 22 with the FLI1 gene on chromosome 11, resulting in the production of the EWSR1-FLI1 fusion protein, which is crucial for oncogenesis. This research aims to investigate EWSR1 gene translocation using fluorescence in situ hybridisation (FISH). Materials and Methods: The study evaluated the prevalence of EWSR1 rearrangements using FISH. We analysed 39 tumour samples with the EWSR1 Dual Color Break Apart Probe Kit. Results: The study included 39 suspected cases of ES, comprising 21 males (53.8%) and 18 females (46.2%), with a median age of 17 years. Out of these, 11 males and eight females tested positive for ES. Conclusion: The study highlights the importance of FISH as a diagnostic tool for ES and its potential in differentiating ES from other small round-cell tumours.