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DETECTION OF THE (11 22)(Q24 Q12) TRANSLOCATION OF EWINGS-SARCOMA AND PERIPHERAL NEUROECTODERMAL TUMOR BY REVERSE TRANSCRIPTION-POLYMERASE CHAIN-REACTION AMERICAN JOURNAL OF PATHOLOGY Downing, J. R., Head, D. R., Parham, D. M., Douglass, E. C., HULSHOF, M. G., Link, M. P., MOTRONI, T. A., Grier, H. E., CURCIOBRINT, A. M., Shapiro, D. N. 1993; 143 (5): 1294-1300

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.

View details for Web of Science ID A1993MF65600009

View details for PubMedID 8238248

View details for PubMedCentralID PMC1887175