伴融合基因表达的上皮样梭形细胞软组织肉瘤3例临床病理观察  

Fusion gene expression in spindle cell soft tissue sarcomas with epithelial cells: report of three cases and review of literature

作　　者：齐妍[1] 何永来[2] 邹泓[1] 庞丽娟[1] 赵瑾[1] 常彬[3] 胡建明[1] 李锋[1] 

机构地区：[1]石河子大学医学院病理学系,新疆石河子832002 [2]石河子大学医学院第一附属医院ICU科室,新疆石河子832000 [3]复旦大学附属肿瘤医院病理科,上海200032

出　　处：《诊断病理学杂志》2014年第4期193-197,共5页Chinese Journal of Diagnostic Pathology

基　　金：国家自然科学基金(No.81202120)

摘　　要：目的 探讨具有上皮分化的梭形细胞软组织肉瘤的临床病理特点和分子遗传学改变.方法 结合文献对3例梭形细胞软组织肉瘤的临床特征、组织形态、免疫表型和RT-PCR结果进行分析.结果 患者发病年龄38～70岁,肿瘤大小6 ～ 15 cm,主要临床表现为无痛性实性肿块.例1为存在PAX3-FKHR融合基因的腺泡状横纹肌肉瘤.镜下在束状或片状排列的梭形细胞背景中,可见少量呈巢状或梁状排列的上皮样细胞;上皮样细胞胞质丰富、嗜酸性;其间还散在细胞核偏位、胞质强嗜酸性的不典型横纹肌母细胞.免疫组化染色示AE1/3灶性（＋）,desmin、MyoD1和Myogenin散在（＋）.例2和例3均为存在SYX-SSX融合基因的滑膜肉瘤,肿瘤细胞形态在梭形细胞背景中,1例可见多量上皮样及多核巨细胞,另1例可见多量透亮细胞;免疫组化染色示EMA和vimentin均（＋）,bcl-2、CD99和AE1/AE3等表达不一致.以上病例均通过融合基因检测证实.结论 应用RT-PCR等分子手段检测特异性标记,为上皮样梭形细胞软组织肉瘤的诊断提供新的思路和视野.Objective To describe clinicopathologic and genetic features of spindle cell soft tissue sarcomas （SCSTS）. Methods The clinical findings, morphological features, immunophenotype （by EnVision method） and fusion gene detection （by one-step reverse transcriptase-polymerase chain reaction） of 3 cases of SCSTS were analyzed. Results Of 3 cases of SCSTS, 2 were male and 1 was female, age ranged from 38 to 70 years. The main clinical presentation was a painless solid mass. Case 1 was diagnosed as primary alveolar rhabdomyosarcoma with PAX3-FHKR fusion transcripts expression. Microscopically, the tumor was characterized by solid, infiltrative lesion consisting of predominant spindle-shaped cells and epithelioid components with extensive necrosis. Spindle cells were distributed in bundle or sheet patterns. Rhabdomyoblasts with eccentric nucleus and bright eosinophilic cytoplasm scattered in a single or small groups. Immunohistochemically, the tumor cells showed variably positive for vimentin, AEI/3, desmin, MyoD1, myogenin. Other two cases were diagnosed as synovial sarcoma with SYT-SSX fusion transcripts expression. Case 2 showed lots of big and clear epithelioid cells in the bundle or sheet patterns of spindle tumor cells. Nests of polygonal to round, and larger with abundant finely granular esinophilic cytoplasm were surrounded by spindle cells and atypia muhinueleated giant cells were scattered in case 3. I mmunohistochemically, the tumor cells showed variably positive for EMA, AE1/3, vimentin, Bcl-2 and CD99. The expression of fusion transcripts was detected by RT-PCR in these three cases. Conclusion RT-PCR and other molecular techniques are very useful tools for pathological diagnosis. The report of adult SCSTS will help clinicians and pathologists better understand this newly described entity.

关 键 词：梭形细胞软组织肉瘤 上皮样细胞 分子病理诊断 融合基因 

分 类 号：R738.6[医药卫生—肿瘤]