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<p>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 <i>DICER1</i> mutations. In addition, a pathogenic <i>TP53</i> 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 <i>TP53</i> alteration.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月24日

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  • Kristýna Němejcová,
  • Eva Horváthová,
  • Michaela Kendall Bártů ,
  • Nikola Kudrnová,
  • Tomáš Klinger,
  • Pavel Dundr

摘要

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.