Department of Urology, Kochi University, Kochi Medical School, Kohasu, Oko, Nankoku, Kochi, 783-8505, Japan.
Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi-Shi, Kochi, 780-0062, Japan.
BMC Urol. 2018 Nov 20;18(1):106. doi: 10.1186/s12894-018-0419-3.
Xp11.2 translocation renal cell carcinoma (RCC) is a rare variety of a kidney neoplasm. We report a case of bilateral Xp11.2 translocation RCC occurring metachronously and discuss this very rare entity with reference to the literature.
The patient was a 56-year-old woman who presented with a right renal tumor. The patient had undergone left radical nephrectomy 7 years previously, which resulted in a histopathological diagnosis of clear cell RCC. Open right partial nephrectomy was performed under the presumptive diagnosis of recurrence of clear cell RCC. The present right renal tumor was pathologically diagnosed Xp11.2 translocation RCC. More than 70% of the tumor cells in the present right tumor were strongly positive for transcription factor E3 (TFE3) expression by immunohistochemical analysis with an anti-TFE3 antibody. A break-apart of the TFE3 genes in the bilateral tumors was identified by fluorescence in situ hybridization analysis. Real time-polymerase chain reaction analysis for the alveolar soft part sarcoma locus-TFE3 fusion gene was performed, which gave a positive result in the bilateral tumors. Pathological comparison of each of the tumors might lead to a final diagnosis of Xp11.2 translocation RCC occurring metachronously.
We present the bilateral Xp11.2 translocation RCC. A combination of immunohistochemical, cytogenetic and molecular biological approaches allowed the final diagnosis of such a rare RCC.
Xp11.2 易位肾细胞癌（RCC）是一种罕见的肾脏肿瘤。我们报告了一例双侧 Xp11.2 易位 RCC 异时性发生的病例，并参考文献对此非常罕见的实体进行了讨论。
患者为 56 岁女性，因右肾肿瘤就诊。患者 7 年前曾行左肾根治性切除术，术后组织病理学诊断为透明细胞 RCC。本次拟诊为透明细胞 RCC 复发，行开放性右肾部分切除术。目前的右肾肿瘤病理诊断为 Xp11.2 易位 RCC。免疫组织化学分析显示，目前右肿瘤中超过 70%的肿瘤细胞 TFE3 表达呈强阳性，使用抗 TFE3 抗体。荧光原位杂交分析显示双侧肿瘤 TFE3 基因发生断裂。进行了肺泡软组织肉瘤 - TFE3 融合基因的实时聚合酶链反应分析，双侧肿瘤均呈阳性结果。对每个肿瘤的病理比较可能导致最终诊断为异时性发生的 Xp11.2 易位 RCC。
我们报告了双侧 Xp11.2 易位 RCC。免疫组织化学、细胞遗传学和分子生物学方法的结合有助于最终诊断出这种罕见的 RCC。
