A novel WWTR1::AFF2 fusion in an intra-abdominal soft tissue sarcoma with associated endometriosis.

ABSTRACT: Application of molecular testing in clinical practice has led to significant advances in the classification of soft tissue sarcomas. Despite remarkable progress, there are still challenging cases that remain unclassified. In this study, we present an unusual spindle cell sarcoma arising in the abdominal cavity of a 37-year-old female. An extensive panel of immunostains was nonspecific for a line of differentiation and the tumor was subjected to targeted RNA sequencing for further classification. The findings showed a novel WWTR1::AFF2 fusion, which was further confirmed by break-apart FISH analysis for WWTR1 gene rearrangement. The tumor was attached to the wall of sigmoid colon and showed a highly cellular proliferation of plump spindle to epithelioid cells arranged in intersecting fascic

SUBMITTER: Dashti NK 

PROVIDER: S-EPMC9233893 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature