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Primary Glial and Neuronal Tumors of the Ovary or Peritoneum: A Clinicopathologic Study of 11 Cases.

11例卵巢或腹膜原发神经胶质瘤和神经瘤临床病理分析

Liang L,Olar A,Niu N,Jiang Y,Cheng W,Bian XW,Yang W,Zhang J,Yemelyanova A,Malpica A,Zhang Z,Fuller GN,Liu J

Abstract

Primary glial and neuronal tumors of the ovary or peritoneum are rare neuroectodermal-type tumors similar to their counterparts in the central nervous system. We retrospectively reviewed 11 cases. These cases included 4 ependymomas, 6 astrocytic tumors, and 1 neurocytoma. Patients' age ranged from 9 to 50 years (mean, 26 y; median, 24 y). All ependymal tumors with detailed clinical history (n=3) were not associated with any other ovarian neoplasm. In contrast, all astrocytic tumors were associated with immature teratoma (n=4), mature cystic teratoma (n=1), or mixed germ cell tumor (n=1). The neurocytoma arose in association with mature teratomatous components in a patient with a history of treated mixed germ cell tumor. Immunohistochemical staining showed that 7 of 7 ependymal and astrocytic tumors (100%) were positive for glial fibrillary acidic protein, and 2 of 2 ependymomas (100%) were positive for both estrogen and progesterone receptors. The neurocytoma was positive for synaptophysin and negative for S100 protein, glial fibrillary acidic protein, and SALL4. No IDH1-R132H mutation was detected in 2 of 2 (0%) astrocytomas by immunohistochemistry. Next-generation sequencing was performed on additional 2 ependymomas and 2 astrocytomas but detected no mutations in a panel of 50 genes that included IDH1, IDH2, TP53, PIK3CA, EGFR, BRAF, and PTEN. Follow-up information was available for 8 patients, with the follow-up period ranging from 4 to 59 months (mean, 15 mo; median, 8.5 mo), of which 3 had no evidence of disease and 5 were alive with disease. In conclusion, primary glial and neuronal tumors of the ovary can arise independently or in association with other ovarian germ cell tumor components. Pathologists should be aware of these rare tumors and differentiate them from other ovarian neoplasms. Even though an IDH1 or IDH2 mutation is found in the majority of WHO grade II and III astrocytomas, and in secondary glioblastomas arising from them, such mutations were not identified in our series, suggesting that these tumors are molecularly different from their central nervous system counterparts despite their morphologic and immunophenotypic similarities.

摘要

卵巢或腹膜原发神经胶质瘤和神经瘤是与发生在中枢神经系统的神经胶质瘤和神经瘤类似、较为罕见的、来自神经外胚层的肿瘤。

我们回顾性研究了11例,包括4例室管膜瘤、6例星形细胞瘤、1例神经细胞瘤。患者年龄在9岁至50岁之间(平均年龄为26岁,中位数为24岁)。有详尽病史的3例室管膜瘤患者均不伴卵巢其他肿瘤。与此相对的是,星形细胞瘤患者中,有4例患有未成熟畸胎瘤,1例患有囊性成熟性畸胎瘤,1例患有生殖细胞瘤。神经细胞瘤则发生于1例曾有混合性生殖细胞肿瘤病史患者的成熟性畸胎瘤成分。免疫组织化学染色方法检测结果显示7例室管膜瘤和星形细胞瘤中GFAP全为阳性(100%),2例室管膜瘤中雌激素受体和孕酮受体均呈阳性(100%)。神经细胞瘤中突触素(SYN)为阳性,S100蛋白、胶质纤维酸性蛋白(GFAP)、SALL4均为阴性。利用免疫组织化学方法检测时,2例星形细胞瘤中均未发现IDH1-R132H突变(0%)。利用二代测序检测另外2例室管膜瘤和2例星形细胞瘤中包括IDH1、IDH2、TP53、PIK3CA、EGFRBRAF、PTEN在内的一组50个基因时,没有发现上述基因的突变。8例患者具有随访资料,随访时间4到59个月(平均为15个月,中位数为8.5个月),其中3例无患病迹象,5例带病生存。

总之,卵巢或腹膜原发神经胶质瘤和神经瘤可独立发生,也可伴发于卵巢其他生殖细胞肿瘤成分。病理学家需重视这类罕见的肿瘤,并将其与卵巢其他的肿瘤区分开来。虽然IDH1或者IDH2突变可见于大部分WHO分级为II级和III级的星形细胞瘤以及由此发生的继发性胶母细胞瘤中,但我们这一组研究中并没有发现这些突变,这提示这些肿瘤与发生在中枢神经系统中的神经胶质瘤或神经瘤虽然在形态和免疫组化结果上是相似的,但在分子层面上是不一样的。

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