PMID- 9242212 OWN - NLM STAT- MEDLINE DCOM- 19970818 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 97 IP - 1 DP - 1997 Aug TI - Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. PG - 12-9 AB - The t(11;22)(q24;q12) translocation is found in about 85% of Ewing tumors and leads in all cases to an EWS/FLI1 fusion gene. In a few instances, complex translocations, involving chromosomes 11, 22 and a third chromosome or other variant translocations not involving chromosome 11 also have been reported. These rearrangements generate an active fusion gene between the EWS gene and either the human FLI1 gene or other members of the ETS gene family: the ERG gene localized in band 21q22.2, the ETV1 gene localized in band 7p22, or the E1AF gene localized in band 17q12. Using fluorescence in situ hybridization (FISH) on interphase nuclei or metaphases, we report here the characterization of particular karyotypes in Ewing tumors, namely a complex t(2;11;22) translocation, a variant t(12;22) translocation, and one Ewing tumor without specific rearrangements but with an EWS/ERG fusion gene demonstrated by molecular analysis. These molecular cytogenetic methods allowed us (1) to precisely localize the genomic breakpoints within-EWSR1 and EWSR2 and to identify the chromosome carrying the fusion gene; (2) to determine the nature of events generating the fusion genes; (3) to demonstrate that some variant translocations represent masked complex translocations; and (4) to show that the generation of an EWS/ERG fusion gene cannot be obtained through a simple balanced translocation. FAU - Desmaze, C AU - Desmaze C AD - Laboratory of Tumor Genetics, Curie Institute, Paris, France. FAU - Brizard, F AU - Brizard F FAU - Turc-Carel, C AU - Turc-Carel C FAU - Melot, T AU - Melot T FAU - Delattre, O AU - Delattre O FAU - Thomas, G AU - Thomas G FAU - Aurias, A AU - Aurias A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (DNA-Binding Proteins) RN - 0 (Heterogeneous-Nuclear Ribonucleoproteins) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Proto-Oncogene Protein c-fli-1) RN - 0 (Proto-Oncogene Proteins) RN - 0 (RNA-Binding Protein EWS) RN - 0 (Ribonucleoproteins) RN - 0 (Trans-Activators) SB - IM MH - *Chromosome Aberrations MH - Chromosomes, Human, Pair 11/genetics MH - Chromosomes, Human, Pair 12/genetics MH - Chromosomes, Human, Pair 2/genetics MH - Chromosomes, Human, Pair 21/genetics MH - Chromosomes, Human, Pair 22/genetics MH - Cosmids MH - DNA-Binding Proteins/*genetics MH - Heterogeneous-Nuclear Ribonucleoproteins MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Oncogene Proteins, Fusion/*genetics MH - Proto-Oncogene Protein c-fli-1 MH - *Proto-Oncogene Proteins MH - RNA-Binding Protein EWS MH - Ribonucleoproteins/*genetics MH - Sarcoma, Ewing/*genetics MH - Trans-Activators/*genetics MH - *Translocation, Genetic MH - Tumor Cells, Cultured EDAT- 1997/08/01 00:00 MHDA- 1997/08/01 00:01 CRDT- 1997/08/01 00:00 PHST- 1997/08/01 00:00 [pubmed] PHST- 1997/08/01 00:01 [medline] PHST- 1997/08/01 00:00 [entrez] AID - S0165460896003263 [pii] AID - 10.1016/s0165-4608(96)00326-3 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 1997 Aug;97(1):12-9. doi: 10.1016/s0165-4608(96)00326-3.