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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 investigate the clinicopathological characteristics and molecular genetic changes of spindle cell soft tissue sarcoma with epithelial differentiation. Methods The clinical features, histomorphology, immunophenotype and RT-PCR results of 3 cases of spindle cell soft tissue sarcoma were analyzed. Results The age of onset was 38-70 years old and the size of tumor was 6-15 cm. The main clinical manifestations were painless solid mass. Example 1 is the alveolar rhabdomyosarcoma in the presence of the PAX3-FKHR fusion gene. Microscopically, in the spindle-shaped or bundled spindle-shaped cell background, a small amount of epithelial-like cells were found in the shape of nests or beams. The epithelial-like cells were abundant in cytoplasm and eosinophilic. Acidophilic atypical rhabdomyoblasts. Immunohistochemical staining showed AE1 / 3 focal (+), desmin, MyoD1 and Myogenin scattered (+). Both cases 2 and 3 were synovial sarcomas in which the SYX-SSX fusion gene was present. In the background of spindle cells, a large number of epithelioid and multinucleated giant cells were seen in one case, while the other cases showed a large number of translucent cells. Immunohistochemistry Staining showed both EMA and vimentin (+), bcl-2, CD99 and AE1 / AE3 expression inconsistent. The above cases were confirmed by fusion gene test. Conclusion RT-PCR and other molecular detection of specific markers for epithelial-like spindle cell soft tissue sarcoma provides a new way of thinking and vision.