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Expanding the Spectrum of NR4A3 Fusion-Positive Gynecologic Leiomyosarcomas.
Momeni-Boroujeni, Amir; Mullaney, Kerry; DiNapoli, Sara E; Leitao, Mario M; Hensley, Martee L; Katabi, Nora; Allison, Douglas H R; Park, Kay J; Antonescu, Cristina R; Chiang, Sarah.
Afiliación
  • Momeni-Boroujeni A; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Mullaney K; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • DiNapoli SE; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Leitao MM; Department of Surgery, Gynecologic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Hensley ML; Department of Medicine, Gynecologic Medical Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Katabi N; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Allison DHR; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Park KJ; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Antonescu CR; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Chiang S; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York. Electronic address: chiangs@mskcc.org.
Mod Pathol ; 37(5): 100474, 2024 May.
Article en En | MEDLINE | ID: mdl-38508521
ABSTRACT
Recurrent gene fusions have been observed in epithelioid and myxoid variants of uterine leiomyosarcoma. PGRNR4A3 fusions were recently described in a subset of epithelioid leiomyosarcomas exhibiting rhabdoid morphology. In this study, we sought to expand the clinical, morphologic, immunohistochemical, and genetic features of gynecologic leiomyosarcomas harboring NR4A3 rearrangements with PGR and novel fusion partners. We identified 9 gynecologic leiomyosarcomas harboring PGRNR4A3, CARMNNR4A3, ACTBNR4A3, and possible SLCO5A1NR4A3 fusions by targeted RNA sequencing. Tumors frequently affected premenopausal women, involving the uterine corpus, uterine cervix, or pelvis. All were similarly characterized by lobules of monomorphic epithelioid and/or spindled cells arranged in sheets, cords, trabeculae, and micro- and macrocysts associated with abundant myxoid matrix and hemorrhage, creating labyrinth-like or pulmonary edema-like architecture. Myogenic differentiation with frequent estrogen receptor and progesterone receptor staining and no CD10 expression characterized all tumors. All cases showed high NR4A3 RNA expression levels and NOR1 (NR4A3) nuclear staining similar to salivary gland acinic cell carcinomas and a subset of extraskeletal myxoid chondrosarcomas harboring NR4A3 rearrangements. NOR1 (NR4A3) immunohistochemistry may serve as a useful diagnostic marker of NR4A3 fusion-positive gynecologic leiomyosarcomas.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Hormona Tiroidea / Leiomiosarcoma Límite: Adult / Aged / Female / Humans / Middle aged Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Hormona Tiroidea / Leiomiosarcoma Límite: Adult / Aged / Female / Humans / Middle aged Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos