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目的:分析Ⅱ型睾丸生殖细胞肿瘤(TGCT)的各亚型病理形态以及免疫组化特点、分子生物学改变,探讨免疫组化染色(IHC)及荧光原位杂交(FISH)检测在TGCT诊断分型中的意义。方法:收集97例TGCT(含有精原细胞瘤成分75例,胚胎癌成分17例,卵黄囊瘤成分11例,成熟性畸胎瘤16例,未成熟畸胎瘤3例,表皮囊肿1例),正常睾丸组织20例,以及非生殖细胞肿瘤的睾丸肿瘤6例。通过IHC检测TGCT各亚型对于不同抗体的阳性表达情况,并运用FISH技术检测各亚型中12号染色体短臂等臂和扩增的发生率。结果:TGCT各亚型的免疫表型各有不同,人类婆罗双树样基因-4(SALL4)及胎盘碱性磷酸酶(PLAP)最广谱、敏感性高,CD117及人八聚体结合转录因子4(OCT4)在浸润性精原细胞瘤和原位生殖细胞瘤(GCNIS)中强阳性表达,而在正常生精小管不表达。卵黄囊瘤显著表达人磷脂酰肌醇蛋白聚糖3(GPC3),表达范围和强度均优于人调节T细胞特异转录因子3(GATA3)和甲胎蛋白(AFP)。胚胎癌表达人广谱细胞角蛋白(CKpan)、OCT4、CD30。绒癌表达人绒毛膜促性腺激素(h CG)。浸润性TGCT中12号染色体短臂发生等臂和扩增的阳性率为96.7%(29/30)。结论:临床病理工作中,绝大部分病例单凭组织形态观察即可诊断TGCT,IHC检测利于更精确的分型,对于个体化治疗选择和预后评估意义重大。12号染色体短臂捕获是Ⅱ型TGCT的特异性分子改变,有助于排除其他病变。
OBJECTIVE: To analyze the pathomorphology, immunohistochemical features and molecular biological changes of each subtype of testicular germ cell tumors (TGCT), and to investigate the correlation between immunohistochemical staining (IHC) and fluorescence in situ hybridization (FISH) The meaning of type. Methods: Ninety-seven cases of TGCT (including 75 cases of seminoma, 17 cases of embryonal carcinoma, 11 cases of yolk sac tumor, 16 cases of mature teratoma, 3 cases of immature teratoma and 1 case of epidermal cyst) , 20 normal testicular tissue, and 6 non-germ cell tumors of the testes. IHC was used to detect the positive expression of different TGCT subtypes for different antibodies, and FISH was used to detect the arms and amplifications of the short arm of chromosome 12 in each subtype. Results: The immunophenotypes of TGCT subtypes were different. The most broad spectrum of human salvage-like gene -4 (SALL4) and placental alkaline phosphatase (PLAP) were highly sensitive. CD117 and human octamer binding transcription Factor 4 (OCT4) is strongly positive in invasive seminoma and in situ germinoma (GCNIS), but not in normal seminiferous tubules. Yolk sac tumor significantly expresses human glypican 3 (GPC3), and its expression range and intensity are better than those of human regulated T cell specific transcription factor 3 (GATA3) and alpha fetoprotein (AFP). Embryonic cancer expresses human broad-spectrum cytokeratin (CKpan), OCT4, CD30. Choriocarcinoma expresses human chorionic gonadotropin (hCG). The positive rate of tetanus and amplification on the short arm of chromosome 12 in invasive TGCT was 96.7% (29/30). Conclusion: In clinicopathological work, the majority of cases can diagnose TGCT only by histological observation. The IHC test is more accurate for classification, which is of great significance for individualized treatment selection and prognosis evaluation. Short arm capture on chromosome 12 is a type II TGCT specific molecular changes, help to rule out other lesions.