荧光原位杂交技术在纵隔原发生殖细胞肿瘤病理诊断中的价值  

Diagnostic value of fluorescence in situ hybridization analysis of chromosome 12p in primary mediastinal germ cell tumors

作　　者：沈勤[1] 吴楠[1] 李锐[1] 魏雪[1] 陆珍凤[1] 夏秋媛[1] 饶秋[1] 周晓军[1] 

机构地区：[1]南京军区南京总医院病理科,南京210002

出　　处：《临床与实验病理学杂志》2016年第9期985-988,共4页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家自然科学基金(81171391;81372743;81372743);院管课题(2013003)

摘　　要：目的 应用荧光原位杂交（fluorescence in situ hybridization,FISH）技术检测纵隔原发生殖细胞肿瘤（primarymediastinal germ cell tumors,PMGCTs）中12p获得的情况,探讨其在PMGCTs病理诊断中的价值。方法 观察3例PMGCTs的临床病理特征,采用免疫组化EnVision法染色检测PMGCTs的免疫表型,应用FISH法检测肿瘤的12p获得情况。结果 3例PMGCTs均为男性,年龄22～24岁。CT示前纵隔占位,例3肿瘤广泛累及肺部。患者血清AFP和（或）β-hCG升高。2例肿瘤组织形态表现为单一精原细胞瘤或混合性生殖细胞肿瘤。免疫表型：SALL4、PLAP均阳性,其中精原细胞瘤成分表达CD117、OCT4,卵黄囊瘤表达AFP,胚胎癌表达CKpan、CD30。例3肿瘤分化差,免疫抗原显著丢失。FISH检测3例PMGCTs均存在i（12p）信号。结论 青春期后非纯畸胎瘤PMGCTs发生12p获得,FISH检测纵隔肿瘤存在i（12p）,具有重要的病理诊断价值。Purpose To detect the status of 12p gain using fluorescence in situ hybridization （FISH） in primary mediastinal germ cell tumors （PMGCTs） , to explore its value in the patgological diagnosis of PMGCTs. Methods The clinicopathologic features of 3 cases of PMGCT were observed. The immunophenotypes were detected by EnVision immunohistochemical stain with different antibody, and the status of 12p gain were analyzed by FISH. Results 3 cases of PMGCTs were men with aged 22 to 24. CT disclosed a lump in the anterior mediastinum. The serum AFP or 13-hCG of patients was increased. Case 1 was seminoma and case 2 was mixed germ cell tumors. The expression of SALL4 and PLAP were positive in the 2 cases, seminoma showed CD117 and OCT4 positive, yolk sac tumor expressed AFP, embryonal carcinoma expressed CKpan and CD30. Cases 3 showed poor histological differentiation, CKpan and AFP expressed in part of tumor, but other immunophenotypes were negative. The i （12p） was detected in all 3 cases. Conclusion The malignant PMGCTs in postpuberty are characterized by i（12p） , which have important diagnostic value using FISH analysis.

关 键 词：纵隔肿瘤 生殖细胞肿瘤 染色体12p 荧光原位杂交 

分 类 号：R737.2[医药卫生—肿瘤]