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
背景与目的:原发性胸壁尤因肉瘤(primary Ewing sarcoma of the thoracic wall,PEST)是发生在胸壁或胸腔的罕见骨外尤因肉瘤。PEST患者生存期短,预后差,复发率高。PEST发病原因未明,发展迅速,早诊断、早治疗是提高患者生存率的有效手段...背景与目的:原发性胸壁尤因肉瘤(primary Ewing sarcoma of the thoracic wall,PEST)是发生在胸壁或胸腔的罕见骨外尤因肉瘤。PEST患者生存期短,预后差,复发率高。PEST发病原因未明,发展迅速,早诊断、早治疗是提高患者生存率的有效手段。本研究通过收集PEST病例,探讨其临床病理学特征、治疗方法及预后,以提高临床对该病的认识及诊疗水平。方法:回顾性分析2018—2023年苏州大学附属第一医院收治的及文献报道的共21例PEST患者的临床资料、病理学特征、治疗及随访结果,采用Kaplan-Meier法计算年龄与累积生存率的关系。结果:全组PEST患者男女比例为13∶8,左右胸比例为6∶15,中位年龄为20岁,平均年龄为28岁,中位肿瘤直径为8.0 cm,平均肿瘤直径为18.1 cm。65.2%患者同侧胸腹痛,47.6%患者侵犯同侧肋骨伴胸腔积液。病理学检查符合肿瘤特征,瘤细胞呈紧密成片或小叶状分布的蓝色小圆细胞,100%CD99弥漫强阳性,80%波形蛋白(vimentin)阳性。苏州大学附属第一医院收治的2例患者荧光原位杂交(fluorescence in situ hybridization,FISH)检测可见EWSR1分离信号,二代测序(next-generation sequencing,NGS)可见EWSR1-FLI1融合。2例患者术前接受新辅助化疗,10例术后接受放化疗,5例仅接受放化疗,1例仅接受手术治疗,3例无手术资料。全组患者随访时间为3~38个月,7例失访。患者的发病年龄与累积生存率呈正相关,平均生存时间为19.98个月,中位生存时间为13.00个月。结论:PEST多见于年轻男性,易发生于右胸,肿物常大于8 cm,大部分病例可通过病理形态学、免疫表型初诊,FISH或NGS行EWSR1基因检测可提供精确诊断。PEST患者预后极差,累积生存率与发病年龄呈正相关,手术、放疗及化疗为PEST的主要治疗手段。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
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
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.
文摘背景与目的:原发性胸壁尤因肉瘤(primary Ewing sarcoma of the thoracic wall,PEST)是发生在胸壁或胸腔的罕见骨外尤因肉瘤。PEST患者生存期短,预后差,复发率高。PEST发病原因未明,发展迅速,早诊断、早治疗是提高患者生存率的有效手段。本研究通过收集PEST病例,探讨其临床病理学特征、治疗方法及预后,以提高临床对该病的认识及诊疗水平。方法:回顾性分析2018—2023年苏州大学附属第一医院收治的及文献报道的共21例PEST患者的临床资料、病理学特征、治疗及随访结果,采用Kaplan-Meier法计算年龄与累积生存率的关系。结果:全组PEST患者男女比例为13∶8,左右胸比例为6∶15,中位年龄为20岁,平均年龄为28岁,中位肿瘤直径为8.0 cm,平均肿瘤直径为18.1 cm。65.2%患者同侧胸腹痛,47.6%患者侵犯同侧肋骨伴胸腔积液。病理学检查符合肿瘤特征,瘤细胞呈紧密成片或小叶状分布的蓝色小圆细胞,100%CD99弥漫强阳性,80%波形蛋白(vimentin)阳性。苏州大学附属第一医院收治的2例患者荧光原位杂交(fluorescence in situ hybridization,FISH)检测可见EWSR1分离信号,二代测序(next-generation sequencing,NGS)可见EWSR1-FLI1融合。2例患者术前接受新辅助化疗,10例术后接受放化疗,5例仅接受放化疗,1例仅接受手术治疗,3例无手术资料。全组患者随访时间为3~38个月,7例失访。患者的发病年龄与累积生存率呈正相关,平均生存时间为19.98个月,中位生存时间为13.00个月。结论:PEST多见于年轻男性,易发生于右胸,肿物常大于8 cm,大部分病例可通过病理形态学、免疫表型初诊,FISH或NGS行EWSR1基因检测可提供精确诊断。PEST患者预后极差,累积生存率与发病年龄呈正相关,手术、放疗及化疗为PEST的主要治疗手段。
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。
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。
