An update of molecular findings in uterine tumor resembling ovarian sex cord tumor and GREB1-rearranged uterine sarcoma with variable sex-cord differentiation

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Abstract

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a uterine mesenchymal tumor defined histologically by showing sex cord-like growth patterns, such as sheets, nests, trabeculae, cords, or tubules, with/without Sertoli-like or Leydig-like components, and immunohistochemically by exhibiting variable sex cord markers in addition to epithelial, myogenic, and sex hormone markers. Recent years have seen the emergence in UTROSCT of novel fusion genes that involve key genes in sex hormone pathways, including ESR1 and GREB1 as the 5′ partner, and (co)activator oncogenes, particularly NCOA1-3, as the 3′ partner. While the identification of similar fusions in the majority of cases serves as a strong argument for UTROSCT to be a distinct entity, there is no denying significant clinicopathologic heterogeneity within the disease spectrum, which might to some extent correlate with the different fusion types. The current review gives a summary of the recently identified fusions in UTROSCT, along with their possible clinicopathologic relevance. Also discussed are unsolved issues including the relationship between UTROSCT and so-called GREB1-rearranged uterine sarcoma as well as other uterine mesenchymal tumors harboring similar fusions.

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Kao, Y. C., & Lee, J. C. (2021, March 1). An update of molecular findings in uterine tumor resembling ovarian sex cord tumor and GREB1-rearranged uterine sarcoma with variable sex-cord differentiation. Genes Chromosomes and Cancer. Blackwell Publishing Inc. https://doi.org/10.1002/gcc.22909

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