Department of Diagnostic and Theranostic Medicine, Institut Curie Hospital, Paris, France.
Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, France.
Genes Chromosomes Cancer. 2022 Apr;61(4):200-205. doi: 10.1002/gcc.23019. Epub 2021 Dec 14.
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.
在过去的十年中，下一代测序技术的发展导致了成人和儿科肉瘤的分子解体，确定了与特定亚型相关的多个基因融合，并已整合到目前的诊断分类中。在本报告中，我们描述并讨论了一名成年患者中出现的新型 EWSR1-UBP1 基因融合的鉴定，该患者患有多部位转移性肉瘤。与一组不同类型的儿科和成人肉瘤进行的广泛的病理学、转录组学和基因组学特征分析表明，这种融合代表了具有 TFCP2 重排亚家族特征的梭形细胞横纹肌肉瘤的新型变体。
