CAJ | 학술논문

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。
목적：탐토선포상연조직육류( alveolar soft part sarcoma, ASPS)적림상병리、면역표형이급분자유전학특정。방법대16례ASPS진행림상병이학、세포화학화면역표형관찰,기중2례행FISH검측。결과16례ASPS중남성6례,녀성10례,발병년령8~58세(중위년령31．7세),림상표현위국부완만생장적종괴。종류발생부위포괄사지、견배부、설、성대、폐、자궁경、수뇨관。경하견전형적기관양혹선포상결구,형성두극상혈관급섬유간격,종류포질내함봉부기산성과립。 PAS염색현시종류세포내가유결정체형성,면역조화표기종류세포TFE3양성,FISH검측종류세포존재ASPL-TFE3기인융합。결론 ASPS호발우청소년,종류호발부위위사지,소견부위(설、성대、자궁경、수뇨관등)발생적ASPS역피오진위상피성악성종류。병리진단시수여원발혹전이성선암、부신경절류감별。종류세포형성전형적선포상결구병차면역조화표기TFE3화조직단백매K대진단유의의,진단시수결합ASPL-TFE3기인융합검측기술。
Purpose To investigate the clinicopathological changes, immuniohistochemistry and molecular genetics phenotypic charac-teristics 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 eosino-philic 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.