Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas

• Published in: Genes chromosomes & cancer Vol. 61; no. 4; pp. 200 - 205
• Main Authors: El Zein, Sophie, Djeroudi, Lounes, Reynaud, Stéphanie, Guillemot, Delphine, Masliah‐Planchon, Julien, Frouin, Eléonore, Nicolas, Nayla, Le Loarer, François, Daniel, Catherine, Delattre, Olivier, Pierron, Gaëlle, Watson, Sarah
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.04.2022; Wiley Subscription Services, Inc
• Subjects: Bone Neoplasms - secondary; DNA-Binding Proteins - genetics; Female; FLI-1 protein; fusion gene; Gene fusion; Humans; Liver Neoplasms - genetics; Liver Neoplasms - secondary; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Metastases; Middle Aged; Oncogene Proteins, Fusion - genetics; Pediatrics; Rhabdomyosarcoma; Rhabdomyosarcoma - classification; Rhabdomyosarcoma - genetics; Rhabdomyosarcoma - pathology; Rhabdomyosarcoma - secondary; RNA sequencing; RNA-Binding Protein EWS - genetics; Sarcoma; Skin Neoplasms - secondary; spindle cell; TFCP2; Transcription Factors - genetics; Transcriptomics; Tumors; RNA sequencing; TFCP2; spindle cell; fusion gene; rhabdomyosarcoma
• ISSN: 1045-2257; 1098-2264; 1098-2264
• DOI: 10.1002/gcc.23019

Over the last decade, the development of next‐generation sequencing techniques has led to the molecular dismantlement of adult and pediatric sarcoma, with the identification of multiple gene fusions associated with specific subtypes and currently integrated into diagnostic classifications. In this report, we describe and discuss the identification of a novel EWSR1‐UBP1 gene fusion in an adult patient presenting with multi‐metastatic sarcoma. Extensive pathological, transcriptomic, and genomic characterization of this tumor in comparison with a cohort of different subtypes of pediatric and adult sarcoma revealed that this fusion represents a novel variant of spindle cell rhabdomyosarcoma with features of TFCP2‐rearranged subfamily.