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<p>Here, we report an exceedingly rare case of a GLI1-rearranged mesenchymal neoplasm primarily occurring in the ovary, a highly unusual site for this tumor type, which typically arises in the gastrointestinal tract or soft tissues. The patient, a 17-year-old female, presented with acute abdominal pain, and imaging revealed an ovarian mass. Histopathological examination confirmed a GLI1-altered mesenchymal tumor, and RNA sequencing identified a novel <i>ACTG1::GLI1</i> fusion, representing the first documented case of <i>ACTG1</i> as a fusion partner for <i>GLI1</i>. By reviewing the literature, we further characterize the morphologic, immunophenotypic, and molecular genetic spectrum of this rare ovarian neoplasm, expanding the known diversity of GLI1-associated fusions in mesenchymal tumors.</p>

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GLI1-rearranged mesenchymal tumor of the ovary with a novel ACTG1::GLI1 fusion

  • 期刊论文

  • 发表日期：

    2025年11月24日

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  • Xue Wang,
  • Zilan Zhang,
  • Xiaoqun Yang,
  • Hongmei Yi,
  • Huafeng Wang

摘要

Here, we report an exceedingly rare case of a GLI1-rearranged mesenchymal neoplasm primarily occurring in the ovary, a highly unusual site for this tumor type, which typically arises in the gastrointestinal tract or soft tissues. The patient, a 17-year-old female, presented with acute abdominal pain, and imaging revealed an ovarian mass. Histopathological examination confirmed a GLI1-altered mesenchymal tumor, and RNA sequencing identified a novel ACTG1::GLI1 fusion, representing the first documented case of ACTG1 as a fusion partner for GLI1. By reviewing the literature, we further characterize the morphologic, immunophenotypic, and molecular genetic spectrum of this rare ovarian neoplasm, expanding the known diversity of GLI1-associated fusions in mesenchymal tumors.