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<p>Uterine mesenchymal neoplasms comprise a heterogeneous group of tumours with distinct morphological and molecular features. High-grade endometrial stromal sarcomas (HG-ESS) are typically defined by <i>YWHAE::NUTM2</i> or <i>BCOR</i> alterations; however, a subset lacks these canonical rearrangements. We report a 59-year-old woman with a HG-ESS-like uterine mesenchymal neoplasm, composed of atypical oval cells with infiltrative growth, brisk mitotic activity, and tumour necrosis. Immunohistochemistry showed diffuse SMA and p16 expression with partial CD10 and cyclin D1 positivity while ER, PR, desmin, ALK, and panTRK were negative. RNA sequencing identified an <i>AKAP9</i> exon 8 to <i>BRAF</i> exon 9 fusion, but no canonical ESS-associated rearrangements or additional alterations (including p53). This finding expands the molecular spectrum of uterine mesenchymal neoplasms and defines a novel kinase-driven subset. The <i>BRAF</i> fusion indicates MAPK pathway activation and raises the possibility of a distinct entity or a novel pathogenetic pathway in HG-ESS, with potential therapeutic implications.</p>

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Uterine mesenchymal neoplasm harbouring an AKAP9::BRAF fusion: identification of a novel kinase-driven molecular subset

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月5日

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  • Svenja Pascale Mende,
  • Nils Hartmann,
  • Stefanie Deckert,
  • Michael Kloth,
  • Wilfried Roth,
  • Arnd Hoenig,
  • Stefan Porubsky

摘要

Uterine mesenchymal neoplasms comprise a heterogeneous group of tumours with distinct morphological and molecular features. High-grade endometrial stromal sarcomas (HG-ESS) are typically defined by YWHAE::NUTM2 or BCOR alterations; however, a subset lacks these canonical rearrangements. We report a 59-year-old woman with a HG-ESS-like uterine mesenchymal neoplasm, composed of atypical oval cells with infiltrative growth, brisk mitotic activity, and tumour necrosis. Immunohistochemistry showed diffuse SMA and p16 expression with partial CD10 and cyclin D1 positivity while ER, PR, desmin, ALK, and panTRK were negative. RNA sequencing identified an AKAP9 exon 8 to BRAF exon 9 fusion, but no canonical ESS-associated rearrangements or additional alterations (including p53). This finding expands the molecular spectrum of uterine mesenchymal neoplasms and defines a novel kinase-driven subset. The BRAF fusion indicates MAPK pathway activation and raises the possibility of a distinct entity or a novel pathogenetic pathway in HG-ESS, with potential therapeutic implications.