EWS-FLI1 fusion transcripts identified in patients with typical neuroblastoma

• Published in: European journal of cancer (1990) Vol. 33; no. 2; pp. 239 - 243
• Main Authors: Burchill, S.A., Wheeldon, J., Cullinane, C., Lewis, I.J.
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier Ltd 01-02-1997; Elsevier
• Subjects: Adolescent; Base Sequence; Biological and medical sciences; Bone Neoplasms - genetics; Child; Child, Preschool; diagnosis; DNA-Binding Proteins - genetics; Ewing's; EWS-FLI1 mRNA; Heterogeneous-Nuclear Ribonucleoproteins; Humans; Male; Medical sciences; Molecular Sequence Data; Neoplasm Proteins - genetics; neuroblastoma; Neuroblastoma - genetics; Neurology; Polymerase Chain Reaction; pPNET; Proto-Oncogene Protein c-fli-1; Proto-Oncogene Proteins; Recombinant Fusion Proteins - genetics; Ribonucleoproteins - genetics; RNA, Messenger - genetics; RNA, Neoplasm - genetics; RNA-Binding Protein EWS; RT-PCR; Sarcoma, Ewing - genetics; small round cell tumours; Trans-Activators - genetics; Translocation, Genetic; Tumors of the nervous system. Phacomatoses; pPNET; Ewing's; EWS-FLI1 mRNA; RT-PCR; small round cell tumours; neuroblastoma; diagnosis; Chromosomal aberration; Human; Nervous system diseases; Tumoral marker; Malignant tumor; Neuroblastoma; Proteins; Polymerase chain reaction; Abnormal chromosome; Autonomic neuropathy; Molecular biology; Tumor cell; Chimera; Chromosome translocation
• ISSN: 0959-8049; 1879-0852
• DOI: 10.1016/S0959-8049(96)00463-7

The t(11.22)(q24.ql2) results in expression of a chimeric RNA product, EWS-FLI1. This RNA product is expressed in over 85% of tumours belonging to the Ewing's family, and is increasingly used as a definitive characteristic of these tumours. In this study, we evaluated reverse transcriptase-polymerase chain (RT-PCR) for EWS-FLI1 fusion transcripts in 18 neurally derived small round cell tumours. These included six Ewing's family tumours and 12 neuroblastomas. EWS-FLI1 fusion transcripts were identified in all six Ewing's tumours, but also in two of the 12 neuroblastomas. One neuroblastoma contained the classic type 1 fusion transcript, and the second a type 1 transcript containing a 66 bp (base pair) insert that was not derived from the
EWS or
FLI1 gene. The presence of EWS-FLI1 fusion products in RNA extracted from primary neuroblastoma suggests the identification of EWS-FLI1 fusion transcripts is not pathognomonic for tumours of the Ewing's family. The clinical significance of these fusion transcripts in neuroblastoma is not known.