It should be used as an aid in the diagnosis of uterine tumor resembling ovarian sex cord (UTROSCT);

UTROSCT is a rare and unique tumor with unclear tissue composition and undetermined malignant potential. This tumor is morphologically similar to sex cord mesenchymal tumors of the ovary and has a polyphenotypic immunophenotype. Its molecular pathogenesis has not yet been elucidated. Notably, however, this tumor lacks the alterations found in other uterine tumors with gonad-like differentiation, such as endometrial mesenchymal sarcoma;

After identifying the index patient with the ESR1-NCOA3 fusion gene by RNA sequencing in a study related to this case published in AJSP 2019, the authors retrospectively examined other cases of UTROSCT. Two of the four patients were found to have an ESR1-NCOA3 fusion, and each also had ESR1-NCOA2 and GREB1-NCOA2 fusions, respectively. The authors concluded that UTROSCT has a characteristic concomitant NCOA2 translocation and NCOA3 translocation abnormality and can be used directly for diagnostic evaluation. This probe can be used to further determine whether the partner gene is GREB1 after a positive NCOA2 break.