腺泡状软组织肉瘤16例临床病理分析

Clinicopathological study of the alveolar soft part sarcoma with 16 cases reports

目的探讨腺泡状软组织肉瘤（alveolar soft part sarcoma,ASPS）的临床病理、免疫表型以及分子遗传学特征。方法对16例ASPS进行临床病理学、细胞化学和免疫表型观察,其中2例行FISH检测。结果 16例ASPS中男性6例,女性10例,发病年龄8~58岁（中位年龄31.7岁）,临床表现为局部缓慢生长的肿块。肿瘤发生部位包括四肢、肩背部、舌、声带、肺、子宫颈、输尿管。镜下见典型的器官样或腺泡状结构,形成窦隙状血管及纤维间隔,肿瘤胞质内含丰富嗜酸性颗粒。PAS染色显示肿瘤细胞内可有结晶体形成,免疫组化标记肿瘤细胞TFE3阳性,FISH检测肿瘤细胞存在ASPL-TFE3基因融合。结论 ASPS好发于青少年,肿瘤好发部位为四肢,少见部位（舌、声带、子宫颈、输尿管等）发生的ASPS易被误诊为上皮性恶性肿瘤。病理诊断时需与原发或转移性腺癌、副神经节瘤鉴别。肿瘤细胞形成典型的腺泡状结构并且免疫组化标记TFE3和组织蛋白酶K对诊断有意义,诊断时需结合ASPL-TFE3基因融合检测技术。

Purpose To investigate the clinicopathological changes,immuniohistochemistry and molecular genetics phenotypic characteristics of the alveolar soft part sarcoma（ ASPS）. Methods 16 cases of ASPS were studied with clinicopathological,cytochemistry technique and immunohistochemical staining,two cases of ASPS were studied by FISH. Results There were 6 males and 10 females with the age 8 ~ 58 years（ median age 31. 7 years）. The tumors were located at limbs,shoulder and back,tongue,vocal cords,lung,cervix,and ureter. The clinical manifestations of the patients was a slowly growing mass. Histopathologically the tumor showed typical organ-like or acinar-like structure with sinus-like blood vessels and the fibrous septa formation. Sometime the clear or abundant eosinophilic granular cytoplasm of the tumors were obvious. The tumor cells had a crystalline substance formation by PAS staining. The tumor cells were positive for TFE3 and Cathepsin K by immunohistochemical staining. The ASPL-TFE3 gene fusion detection of tumor cells were present. Conclusion ASPS often located on the limbs of young patients. It may misdiagnosed as malignant epithelial tumors,primary or metastatic adenocarcinoma and paraganglioma when the tumor locate on a rare anatomical parts or an organs,such as tongue,vocal cords,cervix,ureter,etc. It is valueable that the typical alveolar-like structure of the tumor and the expression for TFE3 and Cathepsin K for the pathological diagnosis of ASPS. It is an important indicator that the ASPL-TFE3 gene fusion detection by FISH for the tumor.