Xp11.2 translocation renal cell carcinoma with multiple bone metastases: A case report

Liu,Jiaju; Su,Zhengming; Li,Yifan; Chen,Duqun; Ni,Liangchao; Mao,Xiangming; Yang,Shangqi; Lai,Yongqing

doi:10.3892/ol.2016.4211

Xp11.2 translocation renal cell carcinoma with multiple bone metastases: A case report

Authors:
- Jiaju Liu
- Zhengming Su
- Yifan Li
- Duqun Chen
- Liangchao Ni
- Xiangming Mao
- Shangqi Yang
- Yongqing Lai
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Affiliations: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China
Published online on: February 9, 2016 https://doi.org/10.3892/ol.2016.4211
Pages: 2233-2236

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Abstract

Xp11.2 translocation/transcription factor enhancer 3 (TFE3) fusion gene associated with renal cell carcinoma (Xp11.2 translocation RCC) is rare and occurs predominantly in children and adolescents. The current study reports the case of a 14‑year‑old male with Xp11.2 translocation RCC, who presented with chest pain that had persisted for 1 month. A solid neoplasm was located in the left kidney of the patient. Contrast‑enhanced computed tomography revealed the presence of a solid mass in the kidney, with uneven enhancement. Destruction of multiple bones was also observed. The patient was treated with a radical nephrectomy. The pathological examination of the tumor revealed that the tumor cells contained an eosinophilic cytoplasm in the renal interstitial tissue. Immunohistochemistry revealed that the tumor cells expressed P504S, cluster of differentiation 10, pan‑cytokeratin, vimentin and TFE3. In conclusion, Xp11.2 translocation RCC is a rare type of kidney cancer. Diagnosing this disease prior to surgery is challenging, and providing a definite diagnosis requires histopathological and immunohistochemical examination, while genetic analysis may also be required.

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