High-grade Endometrial Stromal Sarcoma: Morphologic and Clinical Features, the Role of Immunohistochemistry and Fluorescence in Situ Hybridization in Diagnosis.

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  • Author(s): Alkanat NE;Alkanat NE; Uner A; Uner A; Usubutun A; Usubutun A
  • Source:
    International journal of surgical pathology [Int J Surg Pathol] 2023 Aug; Vol. 31 (5), pp. 521-531. Date of Electronic Publication: 2022 May 04.
  • Publication Type:
    Journal Article
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Sage Publications Country of Publication: United States NLM ID: 9314927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-2465 (Electronic) Linking ISSN: 10668969 NLM ISO Abbreviation: Int J Surg Pathol Subsets: MEDLINE
    • Publication Information:
      Publication: Thousand Oaks, CA : Sage Publications
      Original Publication: Naperville, IL : Churchill Livingstone, c1993-
    • Subject Terms:
      Endometrial Neoplasms*/diagnosis ; Endometrial Neoplasms*/genetics ; Endometrial Neoplasms*/metabolism ; Sarcoma, Endometrial Stromal*/diagnosis ; Sarcoma, Endometrial Stromal*/genetics ; Leiomyosarcoma* ; Uterine Neoplasms*/diagnosis ; Uterine Neoplasms*/genetics ; Sarcoma*; Female ; Humans ; In Situ Hybridization, Fluorescence ; Immunohistochemistry ; Translocation, Genetic
    • Abstract:
      Introduction . High-grade endometrial stromal sarcomas (HGESS) are rare malignant mesenchymal tumors of the uterus with aggressive poor clinical outcome, which frequently exhibit YWHAE::NUTM2 and ZC3H7B::BCOR fusions. In this study, we aimed to investigate HGESSs with YWHAE and BCOR translocations through our archive materials, and to identify morphological, immunohistochemical and molecular features of these tumors. We also assessed the diagnostic value of BCOR immunohistochemistry (IHC) in HGESSs, low-grade endometrial stromal sarcomas (LGESS) and uterine leiomyosarcomas. Methods . One hundred fifty-one uterine sarcomas diagnosed between 2000-2019 were reevaluated, and tumors of 39 patients with specific features were included in the study. Fluorescence in situ hybridization (FISH) studies using YWHAE and BCOR break-apart probes and BCOR IHC were performed. BCOR IHC was also performed in 20 leiomyosarcomas and 19 LGESSs. Results . In six HGESSs, translocations involving YWHAE or BCOR were detected. Five tumors showed high-grade morphology and revealed YWHAE translocation. One HGESS with myxoid morphology revealed BCOR translocation. In immunohistochemistry, three (3/4) YWHAE translocated HGESSs showed BCOR expression. However, the BCOR translocated HGESS was BCOR negative. The study showed that all LGESSs were immunohistochemically negative with BCOR. Although 15% (3/20) leiomyosarcomas reveal focal weak-moderate BCOR expression. Conclusion . BCOR IHC is a useful marker to distinguish LGESS from HGESS. A small percentage of uterine leiomyosarcomas reveal BCOR expression; however, it is not as diffuse and strong as in HGESSs. Strong and diffuse BCOR IHC expression is highly suggestive for HGESS. The diagnosis of HGESS should be supported by molecular studies such as FISH.
    • Contributed Indexing:
      Keywords: BCOR; YWHAE; cyclinD1; endometrial stromal sarcoma; uterine mesenchymal tumor
    • Publication Date:
      Date Created: 20220504 Date Completed: 20230703 Latest Revision: 20230703
    • Publication Date:
      20230703
    • Accession Number:
      10.1177/10668969221098087
    • Accession Number:
      35506912