Characterization of EWS-FLI1 fusion sites in Ewing sarcomas

Aims: Chromosomal translocations are recurrent somatic aberrations in hematologic and mesenchymal malignancies. Genomic breakpoints have been analyzed in a number of leukemia subtypes in order to deduce mechanism involved in translocation formation from DNA fusion sequences. Only few translocation fusion sites have sequenced in sarcomas. Here we show a powerful tool to detect the genomic EWS-FLI1 breakpoint, resulting from t(11;22)(q24;q12), the most common chromosomal translocation in Ewing Sarcomas (ES). Patients and method: Using a two round multiplex long-range PCR (MLR-PCR) EWS-FLI1 fusion sites were amplif…