A case study of metastatic Xp11.2 translocation renal cell carcinoma effectively treated with sunitinib
A case study of metastatic Xp11.2 translocation renal cell carcinoma effectively treated with sunitinib
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DOI：
10.1007/s10147-010-0154-6
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发表时间：
2011-10-01
影响因子：
3.3
通讯作者：
Habuchi, Tomonori
中科院分区：
文献类型：
--
作者：
Numakura, Kazuyuki;Tsuchiya, Norihiko;Habuchi, Tomonori
我们报告一例Xp11.2易位肾细胞癌（RCC）的肺转移有效治疗舒尼替尼。一位43岁的女性，表现为上腹部疼痛，被诊断为左肾肿瘤。行腹腔镜左肾癌根治术。手术标本的组织学检查显示左肾透明细胞癌。两年后，检测到多发性肺转移，患者每天接受50 mg舒尼替尼治疗。舒尼替尼治疗2个周期后进行的计算机断层扫描显示这些转移灶部分消退。部分回归已维持3年以上。在回顾性评价的原发性RCC，肿瘤细胞表现出强烈的核染色的转录因子E3（TFE3）蛋白和TFE3分裂荧光原位杂交显示易位涉及TFE3基因。这些结果支持Xp11.2易位肾细胞癌的诊断。
We report a case of Xp11.2 translocation renal cell carcinoma (RCC) whose lung metastases were effectively treated with sunitinib. A 43-year-old woman presenting with upper abdominal pain was diagnosed with a left renal tumor. Laparoscopic left radical nephrectomy was performed. Histopathological examination of the surgical specimen revealed a clear-cell carcinoma of the left kidney. Two years later, multiple lung metastases were detected and the patient was treated daily with 50 mg sunitinib. A computed tomography scan performed after 2 cycles of sunitinib treatment revealed partial regression of these metastases. The partial regression has been maintained for > 3 years. In retrospective evaluation of the primary RCC, tumor cells showed strong nuclear staining for transcription factor E3 (TFE3) protein and TFE3 split-fluorescence in-situ hybridization revealed translocation involving the TFE3 gene. These findings strongly support diagnosis of Xp11.2 translocation RCC.