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一例伴有变异型SYT-SSX1融合转录本的原发性胸部滑膜肉瘤。

A case of primary synovial sarcoma of the thorax with a variant SYT-SSX1 fusion transcript.

作者信息

Morikawa Hiromasa, Tanaka Toru, Hamaji Masatsugu, Ueno Yoichiro, Yasuda Shigeo, Kato Tatsuo, Kohno Yoshiki, Toguchida Junya

机构信息

Department of General Thoracic Surgery, Nagara Medical Center, Gifu, Japan.

出版信息

Ann Thorac Surg. 2009 Jul;88(1):297-300. doi: 10.1016/j.athoracsur.2008.12.054.

DOI:10.1016/j.athoracsur.2008.12.054
PMID:19559255
Abstract

With synovial sarcoma (SS) of the thorax, being exceptionally rare, its definite diagnosis is difficult, and the optimal therapy has not yet been established. An examination of our patient, a 64-year-old man with SS using a chest roentgenogram showed a large mass with homogeneous density in the lower two-thirds of the left hemithorax. A computed tomographic image of the chest revealed a large, heterogeneous, enhanced mass in the left hemithorax. Histologic examination of the resected tumor tissues suggested monophasic fibrous SS. A fragment of the SYT-SSX1 fusion transcript, which was smaller than the control, was amplified with reverse transcriptase polymerase chain reaction. Direct sequence analyses revealed the fusion between exon 9 of SYT and exon 5 of SSX1 instead of fusion between exon 10 of SYT and exon 6 of SSX1, which is found in most cases. Although the biological and clinical significance of this rare variant is not yet known, our data present another example of the usefulness of molecular analyses for making a definite diagnosis of SS in unusual sites.

摘要

胸部滑膜肉瘤(SS)极为罕见,其明确诊断困难,且尚未确立最佳治疗方法。对我们的患者,一名64岁患有SS的男性进行胸部X线检查,显示左半胸下三分之二处有一个密度均匀的大肿块。胸部计算机断层扫描图像显示左半胸有一个大的、不均匀强化的肿块。对切除的肿瘤组织进行组织学检查提示单相纤维性SS。用逆转录聚合酶链反应扩增出一段比对照小的SYT-SSX1融合转录本片段。直接序列分析显示SYT的第9外显子与SSX1的第5外显子融合,而非大多数病例中发现的SYT的第10外显子与SSX1的第6外显子融合。尽管这种罕见变异的生物学和临床意义尚不清楚,但我们的数据提供了另一个分子分析有助于明确诊断非寻常部位SS的实例。

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