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通过逆转录聚合酶链反应检测到SYT-SSX1融合基因转录本,确诊为原发性支气管内滑膜肉瘤。

Primary endobronchial synovial sarcoma confirmed by SYT-SSX1 fusion gene transcript by reverse transcriptase polymerase chain reaction.

作者信息

Kumar Rajiv, Menon Santosh, Desai Sangeeta B, Pramesh C S, Menon Hari, Jambhekar Nirmala Ajit

机构信息

Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, India.

出版信息

Indian J Pathol Microbiol. 2009 Oct-Dec;52(4):520-3. doi: 10.4103/0377-4929.56147.

Abstract

Primary sarcomas of lung are rare compared to metastatic sarcomas. Herein, we report a rare case of primary pulmonary synovial sarcoma with polypoid endobronchial growth in a 35-year-old lady who presented with cough and dyspnea. A malignant pulmonary tumor was suspected and left pneumonectomy was performed. Grossly, a non-encapsulated polypoidal endobronchial tumor measuring 6 cm in greatest diameter, with a solid, tan-white cut surface was identified. Microscopically, tumor was characterized by a proliferation of oval to spindle-shaped cells arranged in sheets and fascicles. Focal hemangiopericytomatous pattern was noted. Immunohistochemically, tumor cells were positive for vimentin, BCL-2, MIC-2 and calponin and focally positive for pancytokeratin and epithelial membrane antigen. A subsequent molecular analysis performed using reverse transcriptase-polymerase chain reaction with RNA extracted from paraffin-embedded tissue, revealed SYT/SSX1 fusion gene which confirmed the diagnosis of synovial sarcoma. The utility of immunohistochemistry and molecular techniques in diagnosis of such a rare case is stressed and the relevant literature is discussed.

摘要

与转移性肉瘤相比,原发性肺肉瘤较为罕见。在此,我们报告一例罕见的原发性肺滑膜肉瘤病例,该病例为一名35岁女性,表现为咳嗽和呼吸困难,肿瘤呈息肉样向支气管腔内生长。怀疑为恶性肺肿瘤,遂行左肺切除术。大体检查发现一个无包膜的息肉样支气管内肿瘤,最大直径为6 cm,切面实性、棕白色。显微镜下,肿瘤的特征是椭圆形至梭形细胞呈片状和束状增生。可见局灶性血管外皮细胞瘤样形态。免疫组化显示,肿瘤细胞波形蛋白、BCL-2、MIC-2和钙调蛋白呈阳性,细胞角蛋白和上皮膜抗原局灶性阳性。随后,使用逆转录聚合酶链反应对石蜡包埋组织提取的RNA进行分子分析,发现了SYT/SSX1融合基因,从而确诊为滑膜肉瘤。强调了免疫组化和分子技术在诊断此类罕见病例中的作用,并讨论了相关文献。

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