Kommoss F, Lehr H-A
Institut für Pathologie, Medizin Campus Bodensee, Röntgenstr. 2, 88048, Friedrichshafen, Deutschland.
Pathologe. 2019 Feb;40(1):61-72. doi: 10.1007/s00292-018-0562-3.
Sex cord-stromal tumors of the ovary (SCSTO) comprise a heterogeneous and fascinating group of neoplasms with diverse clinicopathological features, including benign lesions as well as tumors with malignant potential. Clinically, SCSTO may be associated with hyperestrogenic or androgenic function as a result of steroid hormone production by the tumor cells.Histological diagnosis may be challenging due to complex and sometimes overlapping morphological features of the various tumor types. A panel of immunohistochemical sex cord markers (e. g. inhibin-α, calretinin) has proven to be helpful in confirming the cellular lineage of SCSTO and differentiating them from other sex cord-like ovarian lesions. Recently, molecular analysis of SCSTO has led to the discovery of specific molecular events such as FOXL2 and DICER1 mutations. In selected diagnostically challenging cases, mutation analysis of FOXL2 and DICER1 may be helpful in the differential diagnosis. Molecular analysis is also expected to help advance the classification of SCSTO, and it may hold prognostic potential and form the basis for future type-specific therapies.This review focuses on the clinicopathological as well as the molecular features of adult and juvenile granulosa cell tumors (AGCTs and JGCTs) as well as Sertoli-Leydig cell tumors (SLCTs), these being the most relevant lesions with malignant potential in the SCSTO category. In addition, recently published molecular findings among rare ovarian gynandroblastomas (GABs) are described, which may also impact the future classification of SCSTO.
卵巢性索间质肿瘤（SCSTO）是一组异质性且引人入胜的肿瘤，具有多样的临床病理特征，包括良性病变以及具有恶性潜能的肿瘤。临床上，由于肿瘤细胞产生类固醇激素，SCSTO可能与雌激素过多或雄激素过多功能相关。由于各种肿瘤类型的形态特征复杂且有时重叠，组织学诊断可能具有挑战性。一组免疫组化性索标记物（如抑制素-α、钙视网膜蛋白）已被证明有助于确认SCSTO的细胞谱系并将它们与其他性索样卵巢病变区分开来。最近，SCSTO的分子分析导致发现了特定的分子事件，如FOXL2和DICER1突变。在某些诊断具有挑战性的病例中，FOXL2和DICER1的突变分析可能有助于鉴别诊断。分子分析也有望推动SCSTO的分类，并且可能具有预后潜力并为未来的类型特异性治疗奠定基础。本综述重点关注成人和青少年颗粒细胞瘤（AGCT和JGCT）以及支持-间质细胞瘤（SLCT）的临床病理和分子特征，这些是SCSTO类别中最相关的具有恶性潜能的病变。此外，还描述了最近在罕见的卵巢两性母细胞瘤（GAB）中发表的分子研究结果，这也可能影响SCSTO的未来分类。
