Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Van Nuys Medical Science Building 128, 635 Barnhill Drive, Indianapolis, IN 46240-5120, United States.
Patho-Lab Diagnostics Ltd., Ness Ziona, Israel.
Pathol Res Pract. 2020 Nov;216(11):153198. doi: 10.1016/j.prp.2020.153198. Epub 2020 Sep 5.
Gonadoblastoma occurring in a normal girl or woman has been confused with ovarian mixed germ cell-sex cord stromal tumor (MGC-SCST) due to a lack of knowledge that the former occurs occasionally in a normal woman or girl. In this article, we develop histological criteria that facilitate the distinction of gonadoblastoma in an individual with a normal karyotype and no evidence of a disorder of sex development from ovarian MGC-SCST. We reviewed the histological findings of gonadoblastoma occurring in normal individuals and compared them to cases of ovarian MGC-SCST in our files. The histological findings of gonadoblastoma differ substantially from those of ovarian MGC-SCST. Importantly, gonadoblastoma contains two types of transformed germ cells, some histologically benign and others premalignant, whereas MGC-SCST contains only a single type, typically premalignant in the ovary and benign in the testis. Furthermore, degenerative changes of hyalinization and calcification are common in gonadoblastoma, whereas they are extremely rare in MGC-SCST. Although the great majority of cases of gonadoblastoma occur in an individual with a disorder of sex development and an abnormal karyotype, a substantial number arise in a normal woman or girl with no evidence of a disorder of sex development. In the latter circumstance, it is important to distinguish gonadoblastoma from ovarian MGC-SCST. It is very likely that those gonadoblastomas arising in a normal individual develop through a different molecular pathway than the ones that occur in the dysgenetic gonads of an individual with a disorder of sex development.
在正常女性或女孩中偶然发生的性腺母细胞瘤，由于缺乏认识，常与卵巢混合性生殖细胞-性索基质肿瘤（MGC-SCST）相混淆。在本文中，我们制定了组织学标准，有助于区分正常核型和无性别发育障碍个体的性腺母细胞瘤与卵巢 MGC-SCST。我们回顾了正常个体中发生的性腺母细胞瘤的组织学发现，并将其与我们档案中卵巢 MGC-SCST 的病例进行了比较。性腺母细胞瘤的组织学发现与卵巢 MGC-SCST 的有很大不同。重要的是，性腺母细胞瘤包含两种类型的转化生殖细胞，一些组织学上良性，另一些为癌前病变，而 MGC-SCST 仅包含一种类型，通常在卵巢中为癌前病变，在睾丸中为良性。此外，玻璃样变性和钙化的退行性变化在性腺母细胞瘤中很常见，而在 MGC-SCST 中极为罕见。尽管绝大多数性腺母细胞瘤发生在性发育障碍和染色体异常的个体中，但相当一部分发生在无性发育障碍的正常女性或女孩中。在后一种情况下，重要的是要将性腺母细胞瘤与卵巢 MGC-SCST 区分开来。很可能在正常个体中发生的那些性腺母细胞瘤是通过与性发育障碍个体的发育不良性腺中发生的性腺母细胞瘤不同的分子途径发展而来的。
