PMID- 9071576 OWN - NLM STAT- MEDLINE DCOM- 19970612 LR - 20111117 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 18 IP - 3 DP - 1997 Mar TI - EWS-ERG fusion transcript produced by chromosomal insertion in a Ewing sarcoma. PG - 228-31 AB - The EWS gene is fused in Ewing sarcoma-like tumors by a chromosomal translocation to one of the four ETS-family genes: FLI1, ERG, ETV1, and E1AF. The orientation of EWS and FLI1 on chromosomes 22 and 11, respectively, is 5' centromeric and 3' telomeric, whereas that of ERG on chromosome 21 is the reverse. Although 10% of Ewing-family tumors express the EWS-ERG fusion transcript, there have been no reports on tumors with t(21;22)(q22;q12) identified by banding cytogenetics. We found the karyotype 50, XY, +8, +8, +12, +mar in all metaphase cells from a tumor. Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis performed on the tumor and direct sequencing of the products identified the EWS-ERG fusion transcript. Subsequent two-color fluorescence in situ hybridization (FISH) analysis with EWS and ERG clones showed the fused signals on the der(21) chromosome, but no ERG signals on the chromosome 22 homologs. Thus, our RT-PCR and FISH analyses indicated that the chromosome 22 fragment containing the 5' portion of EWS had been inverted and inserted into chromosome 21 and had fused to the 3' portion of ERG. This subtle chromosome aberration could not be identified by routine cytogenetics. A chromosomal inversion/insertion has also been described in acute leukemia with the MLL-AF10 fusion gene, and this may be a common pathway for producing fusion of reverse-oriented genes in leukemias and solid tumors. FAU - Kaneko, Y AU - Kaneko Y AD - Department of Cancer Chemotherapy, Saitama Cancer Center Hospital, Japan. FAU - Kobayashi, H AU - Kobayashi H FAU - Handa, M AU - Handa M FAU - Satake, N AU - Satake N FAU - Maseki, N AU - Maseki N LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (DNA, Neoplasm) RN - 0 (Heterogeneous-Nuclear Ribonucleoproteins) RN - 0 (RNA, Neoplasm) RN - 0 (RNA-Binding Protein EWS) RN - 0 (RNA-Binding Proteins) RN - 0 (Ribonucleoproteins) RN - EC 2.7.7.49 (RNA-Directed DNA Polymerase) SB - IM MH - Bone Neoplasms/*genetics MH - *Chromosome Aberrations MH - Chromosome Banding MH - Chromosome Inversion MH - Chromosome Mapping MH - Chromosomes, Human, Pair 11/*genetics MH - Chromosomes, Human, Pair 21/*genetics MH - Chromosomes, Human, Pair 22/*genetics MH - DNA, Neoplasm/analysis MH - Heterogeneous-Nuclear Ribonucleoproteins MH - Humans MH - In Situ Hybridization, Fluorescence MH - Mutation MH - Polymerase Chain Reaction MH - RNA, Neoplasm/analysis MH - RNA-Binding Protein EWS MH - RNA-Binding Proteins/*genetics MH - RNA-Directed DNA Polymerase MH - Ribonucleoproteins/*genetics MH - Sarcoma, Ewing/*genetics MH - Sequence Analysis, DNA MH - Translocation, Genetic EDAT- 1997/03/01 00:00 MHDA- 2000/06/20 09:00 CRDT- 1997/03/01 00:00 PHST- 1997/03/01 00:00 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1997/03/01 00:00 [entrez] AID - 10.1002/(SICI)1098-2264(199703)18:3<228::AID-GCC9>3.0.CO;2-3 [pii] PST - ppublish SO - Genes Chromosomes Cancer. 1997 Mar;18(3):228-31.