性腺母细胞瘤9例临床病理分析

Gonadoblastoma:a clinicopathologic analysis of 9 cases

目的探讨性腺母细胞瘤的临床和病理组织学特征及可能的病因。方法对9例性腺母细胞瘤的临床、病理学特征以及免疫组化结果进行分析。结果患者均为女性,以原发性闭经、两性畸形为主要临床表现,但染色体检查发现均有Y染色体,卵泡刺激素(FSH)和黄体生成素(LH)显著升高,睾酮(T)和雌二醇(E2)水平下降,提示性腺功能不良。肿瘤中可见巢状分布的原始生殖细胞、颗粒样细胞及Call-Exner样小体,其中2例合并无性细胞瘤成分,1例合并原位精原细胞瘤。免疫组化:PLAP和α-inhibin(+)。结论性腺母细胞瘤是一种罕见的良性肿瘤,好发于性发育异常者,可合并无性细胞瘤及精原细胞瘤,治疗采取手术切除性腺,术后辅助性激素治疗。

Objective To observe the clinical pathologic and immunophenotypic features of gonadoblastoma. Methods The pathologic samples of nine patients with gonadoblastoma from February 2004 to March 2011 were observed and analyzed. Immunohistochemical staining was performed by SP method using antibodies of PLAP a-inhibin. Results The main complaint was primary amenorrhea and hermaphroditism and they all had Y chromosome in karyotype. FSH and LH were markedly increased while testosterone and estrodiol were clearly decreased, indicating gonadal dysplasia. The tumor was composed of primary germ cell and undifferentiated granulose cell with nest and Call-Exner body, combined with dysgerminma in one case and seminoma in other case. Strongly positive expression of a-inhibin and PLAP was found in all the cases. Conclusion Gonadoblastoma is a rare benign tumor often associated with disorders of sexual development, especially in the patients with Y chromosome. It can partly combine with dysgerminoma and seminoma. These patients should have bilateral gonadectomy and hormone therapy after the operation. The prognosis of gonadoblastoma is good.