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Xp11.2 易位/TFE3 基因融合相关性肾细胞癌:影像学表现类似于乳头状亚型。

Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: radiological findings mimicking papillary subtype.

机构信息

Department of Radiology, Gifu University School of Medicine, Gifu, Japan.

出版信息

J Magn Reson Imaging. 2011 Jan;33(1):217-20. doi: 10.1002/jmri.22392.

DOI:10.1002/jmri.22392
PMID:21182142
Abstract

The authors describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an 18-year-old man with renal cell carcinoma (RCC) associated with the Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion (Xp11 translocation carcinoma). The lesion was hyperdense on unenhanced CT, hypovascular on contrast-enhanced studies, hypointense on T2-weighted MR images, and hemosiderin deposition was suspected on phase-shift gradient-echo MR images. Histopathological specimens revealed pathological findings resembling papillary RCC predominantly and exhibited immunoreactivity for TFE3. Because there is often considerable morphological overlap between this carcinoma and papillary RCC, the imaging findings of Xp11 translocation carcinoma may be similar to those of the papillary subtype. Therefore, Xp11 translocation carcinoma should be considered, particularly in young patients when radiologic images demonstrate a renal tumor mimicking the papillary subtype.

摘要

作者描述了一例 18 岁男性肾细胞癌(RCC)伴 Xp11.2 易位/转录因子 E3(TFE3)基因融合(Xp11 易位癌)的计算机断层扫描(CT)和磁共振成像(MRI)表现。病变在未增强 CT 上呈高密度,在对比增强研究中呈低血管性,在 T2 加权 MR 图像上呈低信号,在相位转换梯度回波 MR 图像上怀疑存在含铁血黄素沉积。组织病理学标本显示的病理表现主要类似于乳头状 RCC,并表现出 TFE3 的免疫反应性。由于这种癌与乳头状 RCC 之间常常存在相当大的形态学重叠,因此 Xp11 易位癌的影像学表现可能与乳头状亚型相似。因此,当影像学表现为类似于乳头状亚型的肾肿瘤时,特别是在年轻患者中,应考虑 Xp11 易位癌。

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