Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas-Reference-Cited by-同舟云学术

Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas

Published:2023-05-24 Issue:6 Volume:14 Page:1139
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Zou Ying S.¹²³,Morsberger Laura¹²³,Hardy Melanie¹²³,Ghabrial Jen¹²³,Stinnett Victoria¹²³,Murry Jaclyn B.¹²³,Long Patty¹²³,Kim Andrew⁴,Pratilas Christine A.⁵^ORCID,Llosa Nicolas J.⁵,Ladle Brian H.⁵,Lemberg Kathryn M.⁵^ORCID,Levin Adam S.⁶,Morris Carol D.⁷,Haley Lisa¹²,Gocke Christopher D.¹²^ORCID,Gross John M.²

Affiliation:

1. Johns Hopkins Genomics, Baltimore, MD 21205, USA

2. Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

3. Cytogenetics Laboratory, Johns Hopkins Medicine, Baltimore, MD 21205, USA

4. Biotechnology, Johns Hopkins University, Baltimore, MD 21205, USA

5. Division of Pediatric Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21205, USA

6. Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

7. Orthopaedic Surgery Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA

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.

Funder

Johns Hopkins School of Medicine Department of Pathology

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/14/6/1139/pdf

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