Key result
Nested RT-PCR detects the EWS-FLI-1 fusion present in ~85% of Ewing's sarcomas using formalin-fixed tissue.
The development of a nested RT-PCR assay allows for the detection of Ewing's sarcoma specific translocations in archival paraffin-embedded tissues, eliminating the strict need for fresh or frozen samples.
May enable molecular diagnosis of Ewing sarcoma on archival FFPE samples; leaves open prospective clinical validation.
Tumors of the Ewing's sarcoma family often present a major diagnostic challenge for the pathologist. In recent years, significant progress has been made in identifying characteristic chromosomal rearrangements associated with certain solid tumors. More than 85% of Ewing's sarcoma and related tumors present a specific t(11;22) (q24;q12) balanced translocation, which generates a fusion transcript of the EWS gene and the FLI-1 gene. The cloning of the t(11;22)(q24;q12) breakpoint has raised the possibility of using a reverse transcription-polymerase chain reaction (RT-PCR) based assay as a diagnostic tool. We report an improvement of the established method, which currently depends on fresh or snap-frozen tissue, so that it is possible to use formalin-fixed, paraffin-embedded tissue as a source of RNA. The described nested RT-PCR assay enables the pathologist to investigate retrospectively archival tumor samples or to confirm the diagnosis in cases where no fresh or frozen material is available.
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Adams et al. (1996) studied Ewing's sarcoma family tumors. Nested RT-PCR assay on formalin-fixed, paraffin-embedded tissue vs. Fresh or snap-frozen tissue method was evaluated on Detection of t(11;22)(q24;q12) translocation breakpoint. A nested RT-PCR assay enables detection of the t(11;22)(q24;q12) translocation breakpoint, present in >85% of Ewing's sarcomas, using formalin-fixed, paraffin-embedded tissue.
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