Sarcomas with sclerotic epithelioid phenotype harboring novel EWSR1-SSX1 fusions.

ABSTRACT: Undifferentiated sarcomas remain difficult to classify. Despite the remarkable advances in sarcoma classification made by the increased application of RNA sequencing in clinical practice, the unexpected result of a novel gene fusion raises further questions regarding the tumor histogenesis and subclassification. In this study, we present two high grade sarcomas with epithelioid phenotype occurring in the deep-soft tissues (shoulder, thigh) of young adults which based on the non-specific pathologic findings were deemed unclassified and subjected to targeted RNA sequencing for further diagnostic interpretation. The results showed an identical EWSR1 exon 7-SSX1 exon 5 fusion. The breakpoints in both genes represent similar hot spots as seen in Ewing sarcoma and synovial sarcoma, generating a

SUBMITTER: Antonescu CR 

PROVIDER: S-EPMC8266753 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature