摘要目的：探讨腺泡状软组织肉瘤（ ASPS）的临床病理特点及鉴别诊断。方法总结48例腺泡状软组织肉瘤的临床病理学特征、免疫表型及基因检测结果，并复习相关文献。结果收集2001—2014年48例腺泡状软组织肉瘤，男性17例，女性31例，男女之比为1.0∶1.8，发病年龄2～60岁，中位年龄26岁。肿瘤多数位于深部软组织内，下肢多见。组织学可见特征性的腺泡状或巢状结构，其周围由薄壁窦隙样血管环绕。瘤细胞体积大，胞质丰富，嗜伊红颗粒状或半透明空泡状，核圆形、卵圆形或不规则形，可见明显的核仁。血管内常见瘤栓。部分病例伴出血、坏死、囊性变。所检测的33例ASPS免疫组织化学TFE3均为阳性（100％，33／33），4例行荧光原位杂交检测均示肿瘤细胞有TFE3-ASPL基因融合。结论腺泡状软组织肉瘤较为少见，发病年龄轻，TFE3具有较高的特异性和敏感性，但在其他肿瘤也可有阳性表达，需结合其他标志物综合鉴别。

abstractsObjective To study the clinicopathologic features and differential diagnosis of alveolar soft part sarcoma ( ASPS).Methods The clinical data and pathologic features of 48 cases of ASPS were evaluated.Immunohistochemical study , PAS staining and fluorescence in-situ hybridization ( FISH ) were carried out in selected examples.Relevant literature was reviewed.Results Amongst the 48 cases studied , there were 17 males and 31 females, with male-to-female ratio of 1.0∶1.8.The age of patients ranged from 2 to 60 years ( median=26 years ) .The tumor was most commonly located in deep soft tissue , especially that of lower extremities.Histologically, the tumor cells were arranged in alveolar or solid patterns and separated by sinusoidal vessels .They were large and contained abundant eosinophilic granules or crystals in cytoplasm.The nuclei were round to polygonal and vesicular , often with prominent nucleoli.Intravascular tumor extension was common. Some cases showed necrosis , hemorrhage and cystic changes.Immunohistochemical study showed that the tumor cells were positive for TFE 3 ( 100%, 33/33 ).FISH assay was carried out in 4 cases and all of them had TFE 3-ASPL gene fusion .Conclusions ASPS is a rare malignant neoplasm , often occurs in young patients .TFE3 is a useful immunohistochemical marker for diagnosis.The diagnosis is further confirmed by other markers .