Ovarian sex cord–stromal tumors (SCSTs) account for 8% of all primary ovarian neo-plasms. Accurate diagnosis is crucial since each subtype has a specific prognostic and treatment. Apart from fibrosarcomas, stromal tumors are benign while sex cord tumors may recur, sometimes with a significant time to relapse. Although the diagnosis based on morphology is straightforward, in some cases the distinction between stromal tumors and sex cord tumors may be tricky. Indeed, the immunophenotype is usually nonspecific between stromal tumors and sex cord tumors. Therefore, molecular pathology plays an important role in the diagnosis of such entities, with pathognomonic or recurrent alterations, such asFOXL2variants in adult granulosa cell tumors. In addition, these neoplasms may be associated with genetic syndromes, such as Peutz–Jeghers syndrome for sex cord tumors with annular tubules, and DICER1 syndrome for Sertoli–Leydig cell tumors (SLCTs), for which the pathologist may be in the front line of syndromic suspicion. Molecular pathology of SCST is also relevant for patient prognosis and management. For instance, theDICER1variant is associated with moderately to poorly differentiated SLCTS and a poorer prognosis. The present review summarizes the histomolecular criteria useful for the diagnosis of SCST, using recent molecular data from the literature.
卵巢性索-间质肿瘤（SCSTs）占所有原发性卵巢肿瘤的8%。由于每种亚型具有特定的预后和治疗方案，因此准确诊断至关重要。除纤维肉瘤外，间质肿瘤通常为良性，而性索肿瘤可能复发，有时复发间隔时间较长。尽管基于形态学的诊断较为直接，但在某些情况下区分间质肿瘤与性索肿瘤可能存在困难。实际上，这两类肿瘤的免疫表型通常缺乏特异性。因此，分子病理学在此类肿瘤的诊断中发挥重要作用，例如成人型颗粒细胞瘤中具有特征性的FOXL2基因变异。此外，这些肿瘤可能与遗传综合征相关，例如环状小管性索肿瘤与黑斑息肉综合征，支持-间质细胞瘤（SLCTs）与DICER1综合征相关，病理医生可能成为识别此类综合征的前哨。SCST的分子病理学特征也与患者预后和治疗管理相关，例如DICER1基因变异与中低分化SLCTs及不良预后相关。本综述结合最新文献中的分子数据，总结了有助于诊断SCST的组织分子学标准。
肿瘤(癌症)患者之家