罕见的伴EWSR1易位的6例肺原发性黏液样肉瘤的临床病理分析

发布时间：2018-05-07 10:00

本文选题：EWSR基因 + 肺原发性黏液样肉瘤　；参考：《中国癌症杂志》2017年05期

【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。
[Abstract]:Background & objective: primary myxoid sarcoma of the lung is a rare soft tissue tumor. Recently, some researchers have found that the tumor has specific translocation of EWSR1 gene. The aim of this study was to investigate the clinicopathological features and differential diagnosis of primary myxoid sarcoma with EWSR1 gene translocation. Methods: six cases of pulmonary primary myxoid sarcoma with EWSR1 gene translocation were analyzed retrospectively. Clinical and imaging data and histopathology were collected. Immunohistochemistry was used to analyze the immunophenotype, fluorescence in situ hybridization in situ hybridization (fish) was used to detect the fusion status of EWSR1 gene, and the related literatures were reviewed. Results: all the patients were adults, including 4 males and 2 females. The onset age was 2364 years old and the median age was 44 years old. In general, the tumor size is 2.0 ~ 5.5 cm, the boundary of tumor is clear, the cut surface is tough, grayish gray and yellow, gelatinous. The tumor cells were mainly composed of fusiform cells or polygonal cells, arranged in a stripe, beamlike or reticular structure, and the background was of mucoid matrix. There was no specific marker in the tumor, but the epithelial membrane antigen epithelial membrane antigen-EMA-EMA-.FISH showed that the EWSR1 gene rearrangement was positive in different degree. Follow-up for 4 ~ 29 months showed that 5 cases survived without tumor and 1 case had pleural and bone metastasis. Conclusion: primary myxoid sarcoma with EWSR1 gene rearrangement is a rare low grade malignant sarcoma. There are some characteristic changes in histology. It is helpful for diagnosis and differential diagnosis to be familiar with the tumor spectrum and genetic characteristics.
【作者单位】：复旦大学附属肿瘤医院病理科复旦大学上海医学院肿瘤学系;复旦大学附属肿瘤医院胸外科复旦大学上海医学院肿瘤学系;
【基金】：国家自然科学基金面上项目(81472173)
【分类号】：R734.2

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