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<p>A number of gynecologic cancers are associated with hereditary cancer syndromes (HCS). These neoplasms may represent the sentinel lesion for HCS within the affected individual/family. Many of these tumors exhibit distinctive histologic and immunohistochemical features that are associated with HCS tumors. By recognizing these features, pathologists may help in identifying HCS which is important regarding primary prevention efforts and personalized care for affected patients. This review summarizes morphologic features for HCS, such as BRCA, Lynch, Peutz–Jeghers, DICER1, rhabdoid tumor predisposition syndrome&#xa0;2 (SMARCA4-deficiency), tuberous sclerosis, PTEN hamartoma tumor syndrome (Cowden), familiar adenomatous polyposis, and nevoid basal cell carcinoma syndrome.</p>

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Hereditäre Tumorsyndrome – Bedeutung gynäkologischer Tumoren

  • 期刊论文

  • 发表日期：

    2026年7月6日

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  • Anne Kathrin Höhn,
  • Annette Staebler,
  • Felix K. F. Kommoss,
  • Jutta Huvila,
  • Julia Müller,
  • Grit Gesine Ruth Hiller,
  • Lars-Christian Horn

摘要

A number of gynecologic cancers are associated with hereditary cancer syndromes (HCS). These neoplasms may represent the sentinel lesion for HCS within the affected individual/family. Many of these tumors exhibit distinctive histologic and immunohistochemical features that are associated with HCS tumors. By recognizing these features, pathologists may help in identifying HCS which is important regarding primary prevention efforts and personalized care for affected patients. This review summarizes morphologic features for HCS, such as BRCA, Lynch, Peutz–Jeghers, DICER1, rhabdoid tumor predisposition syndrome 2 (SMARCA4-deficiency), tuberous sclerosis, PTEN hamartoma tumor syndrome (Cowden), familiar adenomatous polyposis, and nevoid basal cell carcinoma syndrome.