真两性畸形合并精原细胞瘤1例临床病理分析及文献复习

Clinicopathological characterization of true hermaphroditism complicated with seminoma and review of the literature

目的:探讨真两性畸形合并精原细胞瘤1例的临床病理学特征及诊断。方法:报告1例真两性畸形,合并精原细胞瘤的组织病理学及免疫组化检测结果,同时结合文献复习,进行回顾分析。结果:患者社会性别男性,42岁,因双侧腰背部疼痛不适入院,全腹CT示中下腹巨大肿块。术后病理巨检见子宫样组织一块,体积7 cm×2 cm×6 cm,可见子宫颈及子宫内膜样结构,双侧可见输卵管及卵巢样组织;其左侧可见睾丸一枚,体积4.0 cm×2.5 cm×1.5cm,右侧见一巨大肿物22 cm×9 cm×6 cm,包膜完整,切面灰白灰红相间,并见少量睾丸组织;镜下见肿瘤组织被纤维组织分割包绕呈巢状、片状,肿瘤细胞体积较大,胞质丰富透明,核大深染,染色质粗大、颗粒状,可见核分裂像,间质可见少量淋巴细胞浸润。染色体核型为46,XX。免疫组化结果显示PLAP、CD117均为阳性,而AFP、Vimentin、EMA、S100、CK-LMW、Desmin、CD34及CD30均为阴性,Ki-67为20%阳性。结论:真两性畸形合并精原细胞瘤较为罕见,联合组织病理学分析及免疫表型检测对其诊断和鉴别诊断具有重要价值。

Objective： To study the clinicopathological characteristics and diagnosis of true hermaphroditism complicated with seminoma. Methods： We retrospectively analyzed the clinicopathological data of a case of true hertnaphroditism complicated with seminoma and reviewed the related literature. Results ： The Patient was a 42-year-old male, admitted for bilateral lower back pain and discomfort. CT showed a huge mass in the lower middle abdomen. Gross pathological examination revealed a mass of uterine tissue, 7 cm ~ 2 cm x 6 cm in size, with bilateral oviducts and ovarian tissue. There was a cryptorchidism （4.0 cm × 2.5 cm × 1.5 cm） on the left and a huge tumor （22 cm × 9 cm x 6 cm） on the right of the uterine tissue. The tumor was completely encapsulated, with some testicular tissue. Microscopically, the tumor tissue was arranged in nests or sheets divided and surrounded by fibrous tissue. The tumor cells were large, with abundant and transparent cytoplasm, deeply stained nuclei, coarse granular chromatins, visible mitosis, andinfiltration of a small number of lymphocytes in the stroma. The karyotype was 46, XX. Immunohistochemistry showed that PLAP and CD117 were positive, while the AFP, Vimentin, EMA, SI00, CK-LMW, Desmin, CD34 and CD30 were negative, and Ki-67 was 20% positive. A small amount of residual normal testicular tissue was seen in the tumor tissue. Conclusion ： True hermaphroditism complicated with seminoma is rare. Histopathological analysis combined with immunohistochemical detection is of great value for its diagnosis and differential diagnosis.