肉瘤
融合基因
荧光原位杂交
CD99
滑膜肉瘤
透明细胞肉瘤
癌症研究
免疫组织化学
融合转录本
作者
Cristina R. Antonescu,Brendan C. Dickson,Lei Zhang,Yun-Shao Sung,Christopher D.M. Fletcher
出处
期刊:Modern Pathology
[Springer Nature]
日期:2021-04-15
卷期号:34 (8): 1541-1546
被引量:2
标识
DOI:10.1038/s41379-021-00805-x
摘要
Despite extraordinary advances in the molecular characterization of soft tissue tumors as a result of the widespread application of next generation sequencing in clinical practice, a subset of lesions remain difficult to diagnose. In this study we describe 3 unclassified spindle cell sarcomas with a monomorphic cytomorphology and distinctive storiform growth, characterized by novel fusions between EWSR1 or FUS1, and NACC1 genes. The tumors occurred in 3 young adult females (age range: 29-31) involving deep soft tissues, two located in the lower extremity and one in the abdominal wall. All three tumors showed patchy positivity for S100 protein, while being negative for SOX10 and retained H3K27me3 expression. All cases were negative for epithelial or muscle markers. As the findings were non-specific, molecular studies using targeted panels of RNA sequencing were performed, including one case tested by TruSight RNA Fusion Panel and 2 cases by Archer FusionPlex. The results showed 2 cases were positive for FUS-NACC1 and one for EWSR1-NACC1 fusions. These findings were further confirmed by FISH using custom BAC probes for a dual-color fusion assay. These results suggest the possibility of a previously undescribed soft tissue neoplasm characterized by a uniform spindle cell phenotype arranged in a storiform and fascicular pattern, expressing S100 protein and harboring NACC1-related fusions. The biologic behavior of this tumor remains to be determined.
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