BACKGROUND We present a case of an EWSR1/FUS::NFATC2 rearranged sarcoma in the left forearm and analyze its clinicopathological and molecular features.CASE SUMMARY The patient is a 23-year-old woman.Microscopically,th...BACKGROUND We present a case of an EWSR1/FUS::NFATC2 rearranged sarcoma in the left forearm and analyze its clinicopathological and molecular features.CASE SUMMARY The patient is a 23-year-old woman.Microscopically,the tumor cells were medium-sized round cells arranged in small nests.The cytoplasm was clear,nuclei were relatively uniform,chromatin was dense,nucleoli were visible,and mitotic figures were rare.Immunohistochemically,the tumor cells were positive for Vimentin,INI-1,CD99,NKX2.2,CyclinD1,friend leukaemia virus integration 1,and NKX3.1.Next-generation sequencing revealed the presence of the EWSR1-NFATC2 fusion gene.EWSR1/FUS::NFATC2 rearranged sarcomas are rare and can easily be misdiagnosed.CONCLUSION Clinical imaging,immunohistochemistry,and molecular pathology should be considered to confirm the diagnosis.展开更多
目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)法在尤因肉瘤家族肿瘤(Ewing family tumor,EFT)石蜡包埋组织中检测EWSR1基因易位的可行性及其在临床病理学中的应用价值。方法收集4例EFT疑难病例,观察临床病理学特点,...目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)法在尤因肉瘤家族肿瘤(Ewing family tumor,EFT)石蜡包埋组织中检测EWSR1基因易位的可行性及其在临床病理学中的应用价值。方法收集4例EFT疑难病例,观察临床病理学特点,并采用EWSR1双色分离型探针检测EWSR1基因是否断裂。另以15例其他类型的软组织肿瘤作阴性对照。结果4例EFT疑难病例的EWSR1基因均出现易位,对临床特点、病理学形态或免疫表型不典型的EFT病例具有辅助诊断价值。结论 FISH检测EWSR1基因易位可作为EFT诊断的重要辅助依据,诊断时仍需结合病理形态学和免疫表型综合判断。展开更多
1病史摘要患者,女性,70岁,3天前无明显诱因下出现咳嗽并痰中带血入院,咳痰为血红色,病程中无畏寒发热及呼吸困难。体检:体温36℃,心率88次/分,呼吸21次/分,血压110/77 mm Hg(1 mm Hg≈0.133 k Pa),浅表未触及肿大淋巴结。肿瘤标记物检查...1病史摘要患者,女性,70岁,3天前无明显诱因下出现咳嗽并痰中带血入院,咳痰为血红色,病程中无畏寒发热及呼吸困难。体检:体温36℃,心率88次/分,呼吸21次/分,血压110/77 mm Hg(1 mm Hg≈0.133 k Pa),浅表未触及肿大淋巴结。肿瘤标记物检查:甲胎蛋白(Alpha-fetoprotein,AFP)、癌胚抗原(carcinoembryonic antigen,CEA)、糖类抗原199(carbohydrateantigen,CA199)、CA153、CA125、CA50、神经元特异性烯醇化酶(neuron-specific enolase,NCE)、细胞角蛋白片段(cyto-keratin fragment,CYFRA)均在正常范围内。展开更多
基金Supported by The Shenzhen Science and Technology Program,No.JCYJ20220530144407017.
文摘BACKGROUND We present a case of an EWSR1/FUS::NFATC2 rearranged sarcoma in the left forearm and analyze its clinicopathological and molecular features.CASE SUMMARY The patient is a 23-year-old woman.Microscopically,the tumor cells were medium-sized round cells arranged in small nests.The cytoplasm was clear,nuclei were relatively uniform,chromatin was dense,nucleoli were visible,and mitotic figures were rare.Immunohistochemically,the tumor cells were positive for Vimentin,INI-1,CD99,NKX2.2,CyclinD1,friend leukaemia virus integration 1,and NKX3.1.Next-generation sequencing revealed the presence of the EWSR1-NFATC2 fusion gene.EWSR1/FUS::NFATC2 rearranged sarcomas are rare and can easily be misdiagnosed.CONCLUSION Clinical imaging,immunohistochemistry,and molecular pathology should be considered to confirm the diagnosis.
文摘目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)法在尤因肉瘤家族肿瘤(Ewing family tumor,EFT)石蜡包埋组织中检测EWSR1基因易位的可行性及其在临床病理学中的应用价值。方法收集4例EFT疑难病例,观察临床病理学特点,并采用EWSR1双色分离型探针检测EWSR1基因是否断裂。另以15例其他类型的软组织肿瘤作阴性对照。结果4例EFT疑难病例的EWSR1基因均出现易位,对临床特点、病理学形态或免疫表型不典型的EFT病例具有辅助诊断价值。结论 FISH检测EWSR1基因易位可作为EFT诊断的重要辅助依据,诊断时仍需结合病理形态学和免疫表型综合判断。
文摘1病史摘要患者,女性,70岁,3天前无明显诱因下出现咳嗽并痰中带血入院,咳痰为血红色,病程中无畏寒发热及呼吸困难。体检:体温36℃,心率88次/分,呼吸21次/分,血压110/77 mm Hg(1 mm Hg≈0.133 k Pa),浅表未触及肿大淋巴结。肿瘤标记物检查:甲胎蛋白(Alpha-fetoprotein,AFP)、癌胚抗原(carcinoembryonic antigen,CEA)、糖类抗原199(carbohydrateantigen,CA199)、CA153、CA125、CA50、神经元特异性烯醇化酶(neuron-specific enolase,NCE)、细胞角蛋白片段(cyto-keratin fragment,CYFRA)均在正常范围内。
