摘要
背景与目的:肺原发性黏液样肉瘤是一种非常罕见的软组织肿瘤。最近有学者发现该肿瘤具有特异性的EWSR1基因易位。该研究旨在探讨伴EWSR1基因易位的肺原发性黏液样肉瘤的临床病理学特征及其鉴别诊断。方法:回顾性分析复旦大学附属肿瘤医院病理科诊断的6例伴EWSR1基因易位的肺原发性黏液样肉瘤,收集临床及影像学资料及组织病理学形态,采用免疫组织化学法分析免疫学表型,采用荧光原位杂交(fluorescence in situ hybridization,FISH)检测EWSR1基因融合状态,并复习相关文献。结果:患者均为成年人,其中男性4例,女性2例,发病年龄23~64岁,中位年龄44岁。大体上,肿瘤大小2.0~5.5 cm,肿瘤境界较清楚,切面质韧,灰白灰黄色,胶冻样。镜下观察,所有病例均与支气管关系紧密,肿瘤细胞主要由梭形细胞或多边形细胞组成,排列呈条索状、梁状或网状结构,背景为多少不等的黏液样基质。该肿瘤缺乏特异性标志物,但肿瘤细胞可不同程度表达上皮膜抗原(epithelial membrane antigen,EMA)。FISH检测结果显示EWSR1基因重排阳性。随访4~29个月,其中5例无瘤生存,1例出现胸膜及骨转移。结论:伴有EWSR1基因重排的肺原发性黏液样肉瘤是一种极为罕见的低度恶性的肉瘤。组织学上有一定的特征性改变,熟悉其瘤谱及基因学特征有助于诊断和鉴别诊断。
Background and purpose： Primary pulmonary myxoid sarcoma （PPMS） is a very rare lung tumor that has recently been shown to harbor EWSR1-CREB1 translocation. This study aimed to investigate the clinicopatho- logical characteristics and differential diagnosis of PPMS. Methods： The clinical and pathological features of 6 cases of PPMS with EWSR1 gene rearrangement were reviewed. Immunohistochemistry and fluorescence in situ hybridization （FISH） study were performed. Results： Six patients were enrolled in this study, including 4 male patients and 2 female patients with an age range of 23 to 64 years （median age, 44 years）. All tumors involved pulmonary parenchyma, with a predominant endobronchial component in 1 and adjacent to bronchus in 5 patients. Microscopically, the tumor was lobulated and composed of cords of polygonal, spindle cells within myxoid stroma. Tumors were immunoreactive for only Vimentin and weakly focal for epithelial membrane antigen （EMA）. All tumors were shown to harbor EIYSR1 gene rearrangement by FISH. Follow-up of all patients showed that 1 patient developed a pleura and bone metastasis but was still alive and 5 were disease-free after 4-29 months. Conclusion： PPMS is an extremely rare sarcoma with low-grade malignant potential. This is characterized by distinct histological features and EWSRI gene rearrangement. It is important that understanding tumor spectrum and genetic feature can contribute to diagnosis and differential diagnosis of PPMS.
出处
《中国癌症杂志》
CAS
CSCD
北大核心
2017年第5期334-339,共6页
China Oncology
基金
国家自然科学基金面上项目(81472173)
关键词
EWSR1基因
肺原发性黏液样肉瘤
荧光原位杂交
EWSR1 gene： Primary pt, lmonary myxoid sarcoma： Fluorescence #1 situ hybridization
