Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1-SSX2 fusion identified by RNA-based next-generation sequencing

Fleur Cordier; Joni Van der Meulen; Bram Van Gaever; Lore Lapeire; Gwen Sys; Jo Van Dorpe; David Creytens

doi:10.1002/gcc.22999

Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1-SSX2 fusion identified by RNA-based next-generation sequencing

Genes Chromosomes Cancer. 2022 Jan;61(1):44-49. doi: 10.1002/gcc.22999. Epub 2021 Sep 29.

Authors

Fleur Cordier¹, Joni Van der Meulen^{2

3}, Bram Van Gaever¹, Lore Lapeire^{3

4}, Gwen Sys^{3

5}, Jo Van Dorpe^{1

3}, David Creytens^{1

3}

Affiliations

¹ Department of Pathology, Ghent University Hospital, Ghent University, Ghent, Belgium.
² Molecular Diagnostics Ghent University Hospital (MDG), Ghent University Hospital, Ghent University, Ghent, Belgium.
³ CRIG, Cancer Research Institute Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium.
⁴ Department of Medical Oncology, Ghent University Hospital, Ghent University, Ghent, Belgium.
⁵ Department of Traumatology and Orthopaedics, Ghent University Hospital, Ghent University, Ghent, Belgium.

PMID: 34538011
DOI: 10.1002/gcc.22999

Abstract

Due to the increased application of RNA-based next-generation sequencing techniques on bone and soft tissue round cell sarcomas new fusions are frequently found, thereby expanding the molecular landscape of these tumors. In this report, we describe and discuss the finding of an undifferentiated sarcoma of the bone with a round to epithelioid cell phenotype harboring a novel EWSR1-SSX2 fusion. Treatment of this new bone tumor entity according to the Euro Ewing 2012 protocol led to complete pathologic response.

Keywords: RNA-based next-generation sequencing; euro Ewing 2012 protocol; round cell sarcoma with EWSR1-non-ETS fusions; undifferentiated small round cell sarcomas.

Publication types

Case Reports

MeSH terms

Antineoplastic Combined Chemotherapy Protocols / therapeutic use
Bone Neoplasms / genetics*
Bone Neoplasms / pathology
Bone Neoplasms / therapy
Epithelioid Cells / pathology
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Male
Middle Aged
Neoplasm Proteins / genetics*
Oncogene Proteins, Fusion / genetics*
Osteotomy
RNA-Binding Protein EWS / genetics*
Repressor Proteins / genetics*
Sarcoma / genetics*
Sarcoma / pathology
Sarcoma / therapy
Sequence Analysis, RNA
Translocation, Genetic
Treatment Outcome

Substances

EWSR1 protein, human
Neoplasm Proteins
Oncogene Proteins, Fusion
RNA-Binding Protein EWS
Repressor Proteins
synovial sarcoma X breakpoint proteins