A case of renal cancer with Tfe3 gene fusion in an elderly man - Clinical, radiological and surgical findings
A case of renal cancer with Tfe3 gene fusion in an elderly man - Clinical, radiological and surgical findings
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DOI：
10.1159/000098080
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发表时间：
2007-01-01
影响因子：
1.6
通讯作者：
Leone, Biagio Eugenio
中科院分区：
文献类型：
--
作者：
Franzini, Aldo;Picozzi, Stefano Carlo Maria;Leone, Biagio Eugenio
过去 20 年已有报道称，与 Xp11.2（称为 TFE3 转录因子基因）易位相关的特定肾癌组的散发病例。该组还被列入2004年WHO肾癌分类中。一名79岁男性患者因间歇性肉眼血尿在门诊就诊。超声检查显示左肾呈球形，总体尺寸增大，但没有证据表明由于肿瘤方面的实质不均匀性而导致皮质髓质分化。 CT 证实了左肾超声检查结果并显示肉眼淋巴结受累。血管造影未显示任何病理性动脉循环，但肾静脉大量血栓受累明显。进行了根治性肾切除术、血栓切除术和分期淋巴切除术。病理检查时，肾实质完全被白色坚硬的组织取代。显微镜下，肿瘤由乳头状结构组成，内衬上皮细胞，细胞质透明。发现多个淋巴结转移。免疫组织化学检查显示上皮标记物（细胞角蛋白和上皮膜抗原）呈阴性，CD10 和 TFE3 呈反应性。报告了这种罕见肿瘤的遗传和组织学方面。此外，我们还描述了临床、放射学和手术结果。版权所有 (c) 2007 S. Karger AG，巴塞尔。
Sporadic cases of a particular group of renal cancers associated with a translocation involving Xp11.2, known as the TFE3 transcription factor gene, have been reported in the last 20 years. The group was also classified in 2004 WHO kidney carcinoma classifications. A 79- year- old male patient was investigated at the outpatient department for gross intermittent hematuria. Sonography showed a spherical left kidney with increased total size, without evidence of the corticomedullary differentiation due to parenchymal dyshomogeneity with a neoplasm aspect. CT confirmed the sonographic left kidney findings and showed gross node involvement. Angiography did not show any pathological arterial circulation, but massive thrombotic involvement of the renal vein was evident. Radical nephrectomy with thrombectomy and staging lymphectomy were performed. At pathological examination the kidney parenchyma was completely substituted by white firm tissue. Microscopically the tumor was composed of papillary structures lined by epithelial cells with a clear cytoplasm. Multiple node metastases were found. Immunohistochemical examination showed negativity for epithelial markers ( cytokeratin and epithelial membrane antigen) and reactivity for CD10 and TFE3. The genetic and histological aspects of this rare tumor are reported. In addition, we describe clinical, radiological and surgical findings. Copyright (c) 2007 S. Karger AG, Basel.