Detection of the (11;22)(q24;q12) translocation of Ewing's sarcoma and peripheral neuroectodermal tumor by reverse transcription polymerase chain reaction

• Published in: The American journal of pathology Vol. 143; no. 5; pp. 1294 - 1300
• Main Authors: Downing, JR, Head, DR, Parham, DM, Douglass, EC, Hulshof, MG, Link, MP, Motroni, TA, Grier, HE, Curcio-Brint, AM, Shapiro, DN
• Format: Journal Article
• Language: English
• Published: Bethesda, MD ASIP 01-11-1993; American Society for Investigative Pathology
• Subjects: Amino Acid Sequence; Base Sequence; Biological and medical sciences; Child; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 22; Humans; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Miscellaneous. Technology; Molecular Sequence Data; Neuroectodermal Tumors, Primitive, Peripheral - genetics; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Polymerase Chain Reaction - methods; Sarcoma, Ewing - genetics; Transcription, Genetic; Translocation, Genetic - genetics; Tumor Cells, Cultured; Chromosomal aberration; Human; Ewing sarcoma; Etiopathogenesis; Reverse transcription; Exploration; Malignant tumor; Differential diagnostic; Neuroectodermal tumor; Polymerase chain reaction; Cell line; Cytogenetics; Abnormal chromosome; Molecular biology; Child; Chromosome translocation
• ISSN: 0002-9440; 1525-2191

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.