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<p>Epithelioid leiomyosarcoma (ELMS) of the uterus is an uncommon and diagnostically challenging variant of leiomyosarcoma. We report, to our knowledge, the first ELMS harboring an <i>HMGA2::RAD51B</i> fusion and delineate its clinicopathologic and molecular features. A 64-year-old woman underwent total hysterectomy with bilateral salpingo-oophorectomy for a large myometrial mass initially favored as endometrial stromal sarcoma. Histology showed a multinodular, infiltrative tumor composed of epithelioid cells in trabecular and solid nests within hyalinized stroma, with moderate atypia and brisk mitotic activity (up to 14/10 high-power fields; ~ 6 mitoses/mm<sup>2</sup>). Infarct-type necrosis was present without unequivocal tumor cell necrosis. Immunohistochemistry supported smooth-muscle differentiation (alpha-smooth muscle actin diffuse; desmin focal; h-caldesmon rare) with estrogen receptor and HMGA2 positivity and negativity for melanocytic markers (HMB45 and Melan-A). RNA-based targeted sequencing (Archer FusionPlex Sarcoma) detected a high-confidence, in-frame <i>HMGA2</i> (exon 3)::<i>RAD51B</i> (exon 11) fusion. The integrated morphologic, immunophenotypic, and molecular profile excluded endometrial stromal sarcoma with smooth-muscle differentiation, perivascular epithelioid cell tumor, and uterine tumor resembling ovarian sex-cord tumor, establishing ELMS. The patient remains disease-free at 4&#xa0;months. This case expands the molecular spectrum of ELMS and, concomitantly, broadens the emerging morphologic spectrum of <i>RAD51B</i>-rearranged uterine sarcomas, underscoring the diagnostic value of fusion testing in unusual uterine mesenchymal neoplasms.</p>

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Epithelioid leiomyosarcoma harboring HMGA2::RAD51B fusion: expanding the spectrum of RAD51B-rearranged uterine sarcoma

  • 期刊论文

  • 发表日期：

    2026年1月31日

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  • Hiroshi Yoshida,
  • Yuki Kojima

摘要

Epithelioid leiomyosarcoma (ELMS) of the uterus is an uncommon and diagnostically challenging variant of leiomyosarcoma. We report, to our knowledge, the first ELMS harboring an HMGA2::RAD51B fusion and delineate its clinicopathologic and molecular features. A 64-year-old woman underwent total hysterectomy with bilateral salpingo-oophorectomy for a large myometrial mass initially favored as endometrial stromal sarcoma. Histology showed a multinodular, infiltrative tumor composed of epithelioid cells in trabecular and solid nests within hyalinized stroma, with moderate atypia and brisk mitotic activity (up to 14/10 high-power fields; ~ 6 mitoses/mm2). Infarct-type necrosis was present without unequivocal tumor cell necrosis. Immunohistochemistry supported smooth-muscle differentiation (alpha-smooth muscle actin diffuse; desmin focal; h-caldesmon rare) with estrogen receptor and HMGA2 positivity and negativity for melanocytic markers (HMB45 and Melan-A). RNA-based targeted sequencing (Archer FusionPlex Sarcoma) detected a high-confidence, in-frame HMGA2 (exon 3)::RAD51B (exon 11) fusion. The integrated morphologic, immunophenotypic, and molecular profile excluded endometrial stromal sarcoma with smooth-muscle differentiation, perivascular epithelioid cell tumor, and uterine tumor resembling ovarian sex-cord tumor, establishing ELMS. The patient remains disease-free at 4 months. This case expands the molecular spectrum of ELMS and, concomitantly, broadens the emerging morphologic spectrum of RAD51B-rearranged uterine sarcomas, underscoring the diagnostic value of fusion testing in unusual uterine mesenchymal neoplasms.