title: Xp11.2 translocation renal cell carcinoma with multiple bone metastases: A case report.
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.
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China; Department of Urology, Shantou University Medical College, Shantou, Guangdong 515041, P.R. China.
authors.forename: Jiaju
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China; Department of Urology, Shantou University Medical College, Shantou, Guangdong 515041, P.R. China.
authors.forename: Zhengming
authors.initials: Z
authors.lastname: Su
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China; Department of Urology, Anhui Medical University, Hefei, Anhui 230032, P.R. China.
authors.forename: Yifan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China; Department of Urology, Anhui Medical University, Hefei, Anhui 230032, P.R. China.
authors.forename: Duqun
authors.initials: D
authors.lastname: Chen
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China.
authors.forename: Liangchao
authors.initials: L
authors.lastname: Ni
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China.
authors.forename: Xiangming
authors.initials: X
authors.lastname: Mao
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China.
authors.forename: Shangqi
authors.initials: S
authors.lastname: Yang
authors.affiliation: Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Institute of Urology of Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China.
authors.forename: Yongqing
authors.initials: Y
authors.lastname: Lai
keywords: TFE3; Xp11.2; metastases; renal cell carcinoma