Complex/cryptic EWSR1::FLI1/ERG gene fusions and 1q jumping translocation in pediatric Ewing sarcomas Journal Article
| Authors: | Zou, Y. S.; Morsberger, L.; Hardy, M.; Ghabrial, J.; Stinnett, V.; Murry, J. B.; Long, P.; Kim, A.; Pratilas, C. A.; Llosa, N. J.; Ladle, B. H.; Lemberg, K. M.; Levin, A. S.; Morris, C. D.; Haley, L.; Gocke, C. D.; Gross, J. M. |
| Article Title: | Complex/cryptic EWSR1::FLI1/ERG gene fusions and 1q jumping translocation in pediatric Ewing sarcomas |
| Abstract: | Ewing sarcomas (ES) are rare small round cell sarcomas often affecting children and characterized by gene fusions involving one member of the FET family of genes (usually EWSR1) and a member of the ETS family of transcription factors (usually FLI1 or ERG). The detection of EWSR1 rearrangements has important diagnostic value. Here, we conducted a retrospective review of 218 consecutive pediatric ES at diagnosis and found eight patients having data from chromosome analysis, FISH/microarray, and gene-fusion assay. Three of these eight ES had novel complex/cryptic EWSR1 rearrangements/fusions by chromosome analysis. One case had a t(9;11;22)(q22;q24;q12) three-way translocation involving EWSR1::FLI1 fusion and 1q jumping translocation. Two cases had cryptic EWSR1 rearrangements/fusions, including one case with a cryptic t(4;11;22)(q35;q24;q12) three-way translocation involving EWSR1::FLI1 fusion, and the other had a cryptic EWSR1::ERG rearrangement/fusion on an abnormal chromosome 22. All patients in this study had various aneuploidies with a gain of chromosome 8 (75%), the most common, followed by a gain of chromosomes 20 (50%) and 4 (37.5%), respectively. Recognition of complex and/or cryptic EWSR1 gene rearrangements/fusions and other chromosome abnormalities (such as jumping translocation and aneuploidies) using a combination of various genetic methods is important for accurate diagnosis, prognosis, and treatment outcomes of pediatric ES. © 2023 by the authors. |
| Keywords: | controlled study; treatment outcome; bone neoplasms; bone tumor; gene translocation; major clinical study; genetics; outcome assessment; gene; cohort analysis; retrospective study; ewing sarcoma; sarcoma; rna binding protein; rna-binding proteins; chromosome aberration; fluorescence in situ hybridization; gene rearrangement; microarray analysis; molecular recognition; gene fusion; transcription factor erg; translocation, genetic; chromosome aberrations; chromosome 8; rna binding protein ews; transcription factor fli 1; chromosome analysis; calmodulin binding protein; ewsr1 protein, human; calmodulin-binding proteins; aneuploidy; rna-binding protein ews; chromosome 22; chromosome 20; chromosome 4; ewsr1 gene; sarcoma, ewing; humans; prognosis; human; male; article; erg protein, human; ewing sarcomas; transcriptional regulator erg; 1q jumping translocation; cryptic translocation; ewsr1::erg gene fusion; ewsr1::fli1 gene fusions; three-way translocation |
| Journal Title: | Genes |
| Volume: | 14 |
| Issue: | 6 |
| ISSN: | 2073-4425 |
| Publisher: | MDPI |
| Date Published: | 2023-06-01 |
| Start Page: | 1139 |
| Language: | English |
| DOI: | 10.3390/genes14061139 |
| PUBMED: | 37372318 |
| PROVIDER: | scopus |
| PMCID: | PMC10298448 |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
