RAPID AND SPECIFIC DIAGNOSIS OF T(1122) TRANSLOCATION IN PEDIATRIC EWINGS-SARCOMA AND PRIMITIVE NEUROECTODERMAL TUMORS USING RNA-PCR

One case of paediatric Ewing's sarcoma and two peripheral primitive ne uroectodermal tumours/extra-osseous Ewing's sarcoma were studied for t he characteristic t(11;22) translocation, using a recently described R NA-polymerase chain reaction method (RNA-PCR). PCR products of the exp ected sizes were obtained from RNA derived from the Ewing's sarcoma an d the peripheral primitive neuroectodermal tumours, but not from other paediatric malignancies. Direct sequencing of the RNA-PCR products co nfirmed the presence of the EWS-FLI-1 fusion transcript. In one case t he presence of the translocation was confirmed by cytogenetic analysis . These results highlight the potential use of PCR for the rapid demon stration of diagnostically important tumour specific chromosome rearra ngements.