纵隔原发生殖细胞肿瘤56例临床病理分析

摘要

Purpose To investigate the clinicopathologic features of primary mediastinal germ cell tumors and to improve the diagnosis and treatment guidance. Methods The clinical features, histologic findings, molecular detection and biological behaviors of 56 PMGCT cases were analyzed retrospectively. Results The age of patients ranged from 9 to 48 years (median age 29.1 years), and mature teratoma(76.8％, 43/56) were the most common type.3 cases of mature teratoma were prepubertal patients.53 cases of postpubertal patients included 40 cases of mature teratoma, 2 cases of nonmature teratoma, 2 cases of yolk sac tumor, 5 cases of seminoma, 4 cases of mixed germ cell tumor. All malignant PMGCTs were male, and mature teratoma was found in the female. Histopathologic morphology and immune phenotype of primary mediastinal germ cell tumors were consistent with those of sexual gland. The isochromosome 12p was detected in various component of malignant GCTs, not in mature teratoma. All patients underwent surgical resection, with additional chemotherapy for malignant germ cell tumor cases. The prognosis of mature teratoma regardless of prepubertal or postpubertal patients was benign, but PMGCTs (except mature teratoma) of postpubertal type were malignant. Conclusion Primary mediastinal germ cell tumors are rare and mature teratoma is most common. The malignant PMGCTs mostly occur in young men. The abnormal 12p detected by FISH is helpful to differential diagnosis and guide the treatment.%目的 探讨纵隔原发生殖细胞肿瘤(primary mediastinal germ cell tumors,PMGCTs)的临床病理学特征、诊断及鉴别诊断、治疗及预后.方法 回顾性分析56例PMGCTs的临床病理学形态、分子改变及肿瘤生物学行为,并复习相关文献.结果 56例PMGCTs患者年龄9 ～48岁(平均1岁),以成熟性畸胎瘤最多见(76.8％,43/56).青春期前患者3例,均为成熟性畸胎瘤.青春期后PMGCTs共53例,包括40例成熟性畸胎瘤、2例未成熟畸胎瘤、2例卵黄囊瘤、5例精原细胞瘤、4例混合性生殖细胞肿瘤.13例恶性PMGCTs均为男性,27例女性患者均为良性畸胎瘤.病理组织学形态、免疫表型与性腺生殖细胞肿瘤一致.恶性生殖细胞肿瘤(germ cell tumors,GCTs)各成分均存在等臂12p,而成熟畸胎瘤不发生等臂12p.所有病例均行手术切除术,恶性GCTs术后辅助化疗.无论是青春期前还是青春期后的成熟性畸胎瘤切净后均存活(随访6个月～10年).青春期后PMGCTs(非成熟性畸胎瘤)均恶性,含卵黄囊瘤或胚胎癌成分的患者预后较差.结论 PMGCTs罕见,多为成熟性畸胎瘤,恶性肿瘤好发于青春期后男性.FISH检测12p异常可以帮助诊断和指导治疗预后.