title: Detection of the (11;22)(q24;q12) translocation of Ewing's sarcoma and peripheral neuroectodermal tumor by reverse transcription polymerase chain reaction.
abstract: Ewing's sarcoma and the related primitive neuroectodermal tumor (PNET) share a unique and specific t(11;22)(q24;q12) chromosomal translocation. The breakpoints have recently been cloned and shown to involve the EWS gene on chromosome 22 and the FLI-1 gene on chromosome 11. Translocation results in the fusion of these genes on the der(22) chromosome, resulting in the production of a novel chimeric EWS/FLI-1 message. Using oligonucleotide primers derived from EWS and FLI-1 complementary DNAs, we were able to amplify a specific fusion transcript from 18 of 18 cases containing t(11;22) and 10 of 14 cases of Ewing's sarcoma/PNET that had unsuccessful cytogenetics. No EWS/FLI-1 fusion transcripts were detected in five cell lines derived from cases of pediatric sarcomas having a histological diagnosis other than Ewing's sarcoma/PNET. The sensitivity and specificity of this PCR analysis demonstrates the usefulness of this approach for the primary diagnosis of t(11;22)-containing Ewing's sarcoma/PNET and for the detection of metastatic or residual disease.
authors.affiliation: Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105.
authors.forename: J R
authors.initials: JR
authors.lastname: Downing
authors.forename: D R
authors.initials: DR
authors.lastname: Head
authors.forename: D M
authors.initials: DM
authors.lastname: Parham
authors.forename: E C
authors.initials: EC
authors.lastname: Douglass
authors.forename: M G
authors.initials: MG
authors.lastname: Hulshof
authors.forename: M P
authors.initials: MP
authors.lastname: Link
authors.forename: T A
authors.initials: TA
authors.lastname: Motroni
authors.forename: H E
authors.initials: HE
authors.lastname: Grier
authors.forename: A M
authors.initials: AM
authors.lastname: Curcio-Brint
authors.forename: D N
authors.initials: DN
authors.lastname: Shapiro
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D008969:Molecular Sequence Data; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012512:Sarcoma, Ewing / Q000235:genetics*; D014158:Transcription, Genetic; D014178:Translocation, Genetic / Q000235:genetics*; D014407:Tumor Cells, Cultured