3例性腺母细胞瘤临床病理观察及文献复习

Gonadoblastoma:Clinicopathological study and literature review of 3 cases

目的:探讨性腺母细胞瘤的临床表现、病理特点及特殊组织学亚型、免疫组织化学特征。方法:收集江苏省人民医院2014~2020年确诊的3例性腺母细胞瘤,回顾性分析其临床资料、HE及免疫组织化学结果,并进行随访及文献复习。结果:3例均为女性表型,年龄分别为14岁、17岁、27岁。例1染色体核型为46,XX,未见性腺发育异常;例2核型46,XY,例3为染色体嵌合型(46,XY占90%/45X占10%),后两例均见性腺发育异常。镜下3例均可见经典型形态:原始生殖细胞与周围簇状排列的性索样细胞构成小巢状结构,可见Call-Exner样小体及钙化。此外,例1肿瘤中央区域表现为分割型形态,细胞排列呈条索样、梁状,被富于细胞性的纤维间质分隔;例2和例3合并无性细胞瘤成分。免疫组织化学示原始生殖细胞均表达OCT3/4、PLAP、CDll7、D2-40,性索样细胞表达inhibin、SF-1、SOX9及FOXL2。3例患者分别随访10、6、4年,均未见疾病复发。结论:性腺母细胞瘤是一种罕见的生殖细胞-性索间质肿瘤,通常伴有性腺发育不全,手术切除性腺预后较好;分割型性腺母细胞瘤作为特殊亚型,形态易与无性/精原细胞瘤混淆,但预后较好,因此应提高对该亚型的认识,避免过诊。

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.Result: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.Conclusion: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.