原发性不明的肺转移性低分化单相滑膜肉瘤：分子遗传学分析
Metastatic poorly differentiated monophasic synovial sarcoma to lung with unknown primary: a molecular genetic analysis.
作者信息
Rong Rong, Doxtader Erika E, Tull Jamie, de la Roza Gustavo, Zhang Shengle
机构信息
Department of Pathology, SUNY Upstate Medical University Syracuse, NY 13210, USA.
出版信息
Int J Clin Exp Pathol. 2009 Nov 25;3(2):217-21.
Abstract
Poorly differentiated synovial sarcomas are diagnostically challenging soft tissue tumors. They can be indistinguishable from other "small blue cell tumors" based on morphology and even immunohistochemical studies. Here we report a rare case of poorly differentiated metastatic synovial sarcoma to lung without known primary, diagnosed with molecular genetic analysis. The tumor was negative for EMA and cytokeratin, previously reported as the most sensitive immunostaining markers for synovial sarcomas. SYT-SSX gene fusion, characteristic for synovial sarcoma, was identified in this case by FISH and RT-PCR assays.
摘要
低分化滑膜肉瘤是诊断上具有挑战性的软组织肿瘤。基于形态学甚至免疫组化研究，它们可能与其他“小蓝细胞肿瘤”难以区分。在此，我们报告一例罕见的低分化转移性滑膜肉瘤，其肺转移灶无已知原发部位，通过分子遗传学分析得以确诊。该肿瘤的上皮膜抗原（EMA）和细胞角蛋白检测为阴性，而EMA和细胞角蛋白此前被报道为滑膜肉瘤最敏感的免疫染色标志物。通过荧光原位杂交（FISH）和逆转录聚合酶链反应（RT-PCR）检测，在该病例中鉴定出滑膜肉瘤特有的SYT-SSX基因融合。
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