Detection of a somatic GREB1-NCOA1 gene fusion in a uterine tumor resembling ovarian sex cord tumor (UTROSCT)

Abstract

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare uterine neoplasm of uncertain malignant potential. We present the case of a 69-year-old woman who underwent hysterectomy for postmenopausal bleeding and was found to have a myometrial UTROSCT. RNA-sequencing identified a somatic GREB1–NCOA1 fusion, supporting the diagnosis. Next-generation sequencing is increasingly being adopted in diagnostic pathology laboratories. This report highlights the value of RNA-sequencing in identifying rare fusion events to support pathologic diagnoses.

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