目的 探讨腺泡状软组织肉瘤(ASPS)的临床病理学特征、鉴别诊断及其预后。方法 回顾性研究南京医科大学第一附属医院病理学部2011年1月至2020年8月明确诊断的ASPS的病例共计25例,总结所有病例的临床病理学形态学特征、免疫组化表达、分子遗传学特点以及相关预后信息。结果 25例ASPS男性10例、女性15例。年龄在10~52岁,中位年龄24岁。四肢16例、实质内脏3例、头面部3例,其余躯干、外阴和腹膜后各1例。肿瘤切面大体表现呈暗红色或灰白色,镜下呈现典型的器官样、腺泡状结构特征和细胞学特征。免疫组化肿瘤细胞核特征性表达TFE3,阳性率100%,此外MyoD1、Vim、CgA、DES呈现不同程度的表达；Ki67细胞增殖指数为5%~25%；其余标记物均为阴性表达。FISH检测可见TFE3基因异常断裂。结论 ASPS的起源不明,好发于青年人,病变部位以四肢常见,该病具有特征性的TFE3蛋白和基因的表达,病理检查是该肿瘤最为可靠的诊断证据,随着对该肿瘤分子机制的不断认识,未来靶向治疗可能具有极大的潜力。
Objective To invetigate the clinical pathological characteristics, differential diagnosis features and prognosis of alveolar soft part sarcoma (ASPS) . Method 25 cases were studed by the clinical pathological characteristics, immunohistochemical expression, molecular genetic features and related prognostic information. Results There were 10 male and 15 female patients. Ages ranged from 10 to 52 years ( mean 24 years) . Tumors occurred in 16 cases of limbs, 3 cases of parenchymal internal organs, 3 cases of head and face, and 1 case each of the remaining trunk, vulva and retroperitoneum. The gross appearance of the tumor was dark red or gray white. Microscopically, it showed typical organ like, acinar and cytological features. Immunohistochemistry results showed that the positive rate of TFE3 in the nucleus was 100%, in addition, the MyoD1、Vim、CgA、DES showed different degrees of expression; the cells proliferation index of Ki67 was 5%~25%; the other markers were negative expression. Fish test results showed that TFE3 gene was abnormal. Conclusion The origin of ASPS is unknown and often locate on the limbs of young patients, which is characterized by TFE3 protein and gene expression.Pathological examination is the most reliable evidence for the diagnosis of the tumor. As the molecular mechanism of the tumor continues to be understood, targeted therapies may have great potential in the future.