Centre Léon Bérard, Lyon, France; Université Claude Bernard Lyon1 - Université de Lyon, Lyon, France.
Institut Roche de Recherche et Médecine Translationnelle, 92650 Boulogne Billancourt, France.
Gynecol Oncol. 2014 Jan;132(1):181-7. doi: 10.1016/j.ygyno.2013.10.013. Epub 2013 Oct 22.
Ovarian sex cord-stromal tumors (SCSTs) are rare and their diagnosis is often difficult to establish. Recently, immunostaining and molecular analysis for Forkhead box L2 (FOXL2) have been developed in this pathology. This study aims to assess the benefit of an algorithm incorporating these new tools for a better diagnosis and classification of SCSTs
Seventy-two tumors with a potential diagnosis of SCSTs were addressed by 37 different pathologists to one French rare ovarian tumor expert center, member of the Rare Malignant Ovarian Tumor network (TMRO). Then a "second opinion" (SO) through an algorithm incorporating immunostaining (IHC) and molecular analysis of FOXL2 was performed for all these cases. This algorithm was then validated by all pathologists of the TMRO network.
After a second opinion including molecular analysis and immunostaining for FOXL2 the initial diagnosis was changed in 15 of 72 samples (21%). FOXL2 mutation was present in 44 out of 47 adult granulosa cell tumors (94%), in 3 out of 8 Thecomas (37%), in 1 out of 10 Sertoli-Leydig cell tumors (SLSTs) (10%) and in 3 out of 5 undifferentiated-SCSTs (Und-SCSTs) (60%). Immunoexpression of FOXL2 was available in 45 cases of SCSTs: FOXL2 was expressed in 44 of them (98%).
A second opinion in an expert center for all cases of SCSTs is fundamental to get an optimal classification of these rare tumors. This second opinion could be performed with an algorithm which integrates FOXL2 mutation and expression status of FOXL2 in order to standardize the practice.
卵巢性索-间质肿瘤（SCSTs）较为罕见，其诊断往往难以确定。最近，在该病理学中已经开发了针对叉头框 L2（FOXL2）的免疫染色和分子分析。本研究旨在评估纳入这些新工具的算法对更好地诊断和分类 SCSTs 的益处。
37 位不同的病理学家将 72 个可能诊断为 SCST 的肿瘤提交给了法国一个罕见卵巢肿瘤专家中心，该中心是罕见恶性卵巢肿瘤网络（TMRO）的成员。然后，对所有这些病例都通过纳入免疫染色（IHC）和 FOXL2 分子分析的算法进行了“第二次意见”（SO）。然后，TMRO 网络的所有病理学家都对该算法进行了验证。
在包括 FOXL2 的分子分析和免疫染色的第二次意见后，72 个样本中的 15 个（21%）初始诊断发生了改变。FOXL2 突变存在于 47 例成人颗粒细胞瘤（94%）中的 44 例中、8 例间质细胞瘤（37%）中的 3 例中、10 例 Sertoli-Leydig 细胞瘤（SLSTs）（10%）中的 1 例中以及 5 例未分化-SCSTs（Und-SCSTs）（60%）中的 3 例中。FOXL2 的免疫表达可用于 45 例 SCST 病例：FOXL2 在其中的 44 例（98%）中表达。
所有 SCST 病例在专家中心进行第二次意见对于获得这些罕见肿瘤的最佳分类至关重要。这种第二次意见可以通过整合 FOXL2 突变和 FOXL2 表达状态的算法来进行，以规范实践。
