目的:探讨临床特点,病理形态学,性腺母细胞瘤特殊的组织病理学亚型和免疫组织化学特征。
方法:纳入2014年至2020年治疗的3例性腺母细胞瘤患者,和临床特征,组织学形态学和免疫表型分析,并对文献进行了综述。
结果:三个表型女性分别为14、17和27岁。病例1为46,XX,性腺发育正常。病例2为46,XY,病例3为染色体嵌合型(46,XY90%/45,X10%),都有发育异常的性腺.微观上,在所有情况下或多或少都观察到了经典型的形态,显示原始生殖细胞和周围簇生的性索样细胞的小巢,通常与Call-Exner一样的身体和钙化。另外,在病例1中可以看到特殊亚型的形态,表现为索状肿瘤细胞,被细胞纤维基质分割。病例2和3均伴有无性细胞瘤成分。免疫组织化学,所有原始生殖细胞OCT3/4,PLAP和CDll7均为阳性,六合细胞抑制素呈阳性,SF-1、SOX9和FOXL2。患者随访10年,6年和4年无复发。
结论:性腺母细胞瘤是一种罕见的生殖细胞性索间质瘤,通常伴有性腺发育不全。作为一种特殊的子类型,解剖性腺母细胞瘤很容易与无性细胞瘤/精原细胞瘤混淆,但预后更好.因此,我们应该提高对该亚型的认识,避免过度诊断。
OBJECTIVE: To investigate the clinical feature, pathological morphology, special histopathological subtype and immunohistochemical characteristic of
gonadoblastoma.
METHODS: Three patients of
gonadoblastoma treated from 2014 to 2020 were enrolled, and the clinical characteristics, histological morphology and immunophenotype were analyzed, and the literatures were also reviewed.
RESULTS: Three phenotypical females were 14,17 and 27 years old. Case 1 was 46,XX with normal gonadal development. Case 2 was 46,XY and case 3 was chromosomal chimeric type (46, XY 90%/45,X 10%), both with dysgenetic gonads. Microscopically, the morphology of classic type was observed in all cases more or less, manifesting small nests of primitive germ cells and surrounding clustered sex cord-like cells, usually with Call-Exner like bodies and calcification. In additon, the morphology of special subtype can be seen in case 1,exhibiting cord-like tumor cells, which was segmentated by cellular fibrous stroma. Cases 2 and 3 were accompanied by dysgerminoma components. Immunohistochemically,all the primal germ cells were positive for OCT3/4, PLAP and CDll7 , and sexcord-like cells were positive for inhibin, SF-1, SOX9 and FOXL2 . Patients were followed up for 10 years, 6 years and 4 years respectively without recurrence.
CONCLUSIONS: Gonadoblastoma is a rare germ cell-sex cord stromal tumor, which is usually accompanied by gonadal hypoplasia. As a special subtype, dissecting
gonadoblastoma will be easily confused with dysgerminoma/seminoma, but the prognosis is better. So we should improve the understanding of this subtype and avoid overdiagnosis.