Undifferentiated small round cell sarcoma (USRCS) represents a highly heterogeneous group of tumors. A variety of specific gene fusions of USRCS have been reported, including , , , and . Here we report a case of sarcoma harboring a rare recurrent gene fusion, which was considered as USRCS previously. This sarcoma was composed of nests of small round cells encapsulated in a fibrous stroma. Foci of necrosis and hemorrhage were observed in the tumor. Immunohistochemistry for anaplastic lymphoma kinase showed diffuse positivity. RNA-seq results revealed a chromosomal translocation of gene exon 1 on chromosome 19 with gene exon 2 on chromosome 18. Thereafter, fluorescence in-situ hybridization confirmed the presence of gene and gene break-apart, which manifested as the splitting of red and green signals into 2 parts. A previous study showed that fusion sarcoma and fusion angiomatoid fibrous histiocytoma were clustered close in the expression profile. However, whether fusion sarcomas represent a high malignancy has been a matter of debate. Our study is a worthy addition to the series of rare rearrangements associated with sarcomas and may be of therapeutic relevance.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1177/10668969211021997 | DOI Listing |
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!