title: Detection of t(11;22)(q24;q12) translocation breakpoint in paraffin-embedded tissue of the Ewing's sarcoma family by nested reverse transcription-polymerase chain reaction.
abstract: 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.
authors.affiliation: Department of Pathology, Institute of Clinical Pathology, Zürich, Switzerland.
authors.forename: V
authors.initials: V
authors.lastname: Adams
authors.forename: M A
authors.initials: MA
authors.lastname: Hany
authors.forename: M
authors.initials: M
authors.lastname: Schmid
authors.forename: S
authors.initials: S
authors.lastname: Hassam
authors.forename: J
authors.initials: J
authors.lastname: Briner
authors.forename: F K
authors.initials: FK
authors.lastname: Niggli
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D012512:Sarcoma, Ewing; D014178:Translocation, Genetic