What question did this study set out to answer?

Explore the occurrence of high-grade transformation in ovarian sertoli-leydig cell tumors and associated genetic mutations.

February 26, 2026Open Access

A case of ovarian Sertoli-Leydig cell tumor with high grade transformation harbouring DICER1 and TP53 mutations

Key Points

Explore the occurrence of high-grade transformation in ovarian sertoli-leydig cell tumors and associated genetic mutations.
Case report detailing a 73-year-old patient with ovarian sertoli-leydig cell tumor.
Utilized next-generation sequencing (NGS) DNA sequencing for mutation analysis.
Documented tumor morphology and immunophenotype characteristics.
Identified high-grade transformation in a case of ovarian sertoli-leydig cell tumor.
Found two somatic mutations in the DICER1 gene.
Detected a pathogenic TP53 mutation in the high-grade area of the tumor.

Abstract

Sertoli-Leydig cell tumor (SLCT) is a rare ovarian sex cord-stromal tumor that may occur sporadically or in the context of DICER1 syndrome. We present a case of ovarian SLCT with high-grade transformation in a 73-year-old patient. The tumor showed typical morphology and immunophenotype of moderately differentiated SLCT with distinct areas of high-grade transformation. NGS DNA sequencing revealed two somatic DICER1 mutations. In addition, a pathogenic TP53 mutation was detected exclusively in the high-grade area. This case represents only the second documented ovarian SLCT with confirmed high-grade transformation supported by a concurrent TP53 alteration.

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