Abstract：Objective: To investigate the clinicopathologic features, treatment and prognosis of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions. Methods: Two patients with renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions were diagnosed and treated in our institution, and the clinical data were retrospectively analyzed. Results: The renal cell carcinoma of 2 cases reported was located in the left kidney. Case one was diagnosed with distant metastasis and palliative surgery was performed. Case two was given the radical resection of the left kidney. Immunohistochemical examination showed that both patients were positive for TFE3. Two cases were postoperatively followed up for 12 months. The case one had stable clinical condition, and another had no recurrence and distant metastasis. Conclusions: Xp11.2 translocation-associated renal cell carcinoma (Xp11.2 RCC) is characterized by the gene fusions between the transcription factor E3 (TFE3), which is located on the chromosome Xp11.2 and a variety of fusion partners. Xp11.2 RCC is a newly defined rare entity with more lymph node metastasis and higher tumor stage. The diagnosis mainly depends on histopathological characteristics, TFE3-positive immune markers and fluorescence in situ hybridization technique. Patients with metastatic renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions could benefit from the target therapy. Surgery is the preferred and radical cure for this type of kidney neoplasms.
杨昭伟 孔雪 魏文焕 孙丹 殷磊 李泽良 孔垂泽. Xp11.2易位/TFE3基因融合相关性肾癌两例报告并文献复习[J]. 微创泌尿外科杂志, 2016, 5(5): 306-311.
Yang ZhaoweiKong Xue Wei Wenhuan Sun Dan Yin Lei Li Zeliang Kong Chuize. Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions: a study of 2 cases and review of literature. JOURNAL OF MINIMALLY INVASIVE UROLOGY, 2016, 5(5): 306-311.
[1]de Jong B, Molenaar IM, Leeuw JA, et al. Cytogenetics of a renal adenocarcinoma in a 2-year-old child. Cancer Genet Cytogenet, 1986,21(2):165-169. [2]Eble JN, Sauter G, Epstein JI, et al. World Health Organization classification of tumors: pathology and genetics of tumors of the urinary system and male genital organs. Lyon: IARC Press, 2004:37-38. [3]Klaassen Z, Tatem A, Burnette JO, et al. Adult Xp11 translocation associated renal cell carcinoma: time to recognize. Urology, 2012,80(5):965-968. [4]Klatte T, Streubel B, Wrba F, et al. Renal cell carcinoma associated with transcription factor E3 expression and Xp11.2 translocation: incidence, characteristics, and prognosis. Am J Clin Pathol, 2012,137(5):761-768. [5]Altinok G, Kattar MM, Mohamed A, et al. Pediatric renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions and clinicopathologic associations. Pediatr Dev Pathol, 2005,8(2):168-180. [6]Argani P, Olgac S, Tickoo SK, et al. Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am J Surg Pathol, 2007,31(8):1149-1160. [7]Zou H, Kang X, Pang LJ, et al. Xpl1 translocation renal cell carcinoma in adults: a clinicopathological and comparative genomic hybridization study. Int J Clin Exp Pathol, 2013,7(1):236-245. [8]Komai Y, Fujiwara M, Fujii Y, et al. Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry. Clin Cancer Res, 2009,15(4):1170-1176. [9]Pwint TP, Macaulay V, Roberts IS, et al. An adult Xp11.2 translocation renal carcinoma showing response to treatment with sunitinib. Urol Oncol, 2011,29(6):821-824. [10]Qiu Rao, Bing Guan, Zhou XJ, et al. Xp11.2 translocation renal cell carcinomas have a poorer prognosis than non-Xp11.2 translocation carcinomas in children and young adults: a meta-analysis. Int J Surg Pathol, 2010,18(6):458-464. [11]Xu L, Yang R, Wang W, et al. Laparoscopic radiofrequency ablation-assisted enucleation of Xp11.2 translocation renal cell carcinoma: a case report. Oncol Lett, 2014,8(3):1237-1239. [12]Zhu QQ, Wang ZQ, Zhu WR, et al. The multislice CT findings of renal carcinoma associated with Xp11.2 translocation/TFE gene fusion and collecting duct carcinoma. Acta Radiol, 2013,54(3):355-362. [13]Chen X, Zhu Q, Li B, et al. Renal cell carcinoma associated with Xp11.2 translocation/TFEgene fusion: imaging findings in 21 patients. Eur Radiol, 2016,Jun,http://link.springer.com/article/10.1007%2Fs00330-016-4421-4 [14]He J, Zhou K, Zhu B, et al. Dynamic Contrast-Enhanced CT characterization of Xp11.2 translocation/TFE3 gene fusions versus Papillary Renal Cell Carcinomas. Biomed Res Int, 2015,2015:298679. [15]徐晓晨,甘卫东,李笑弓,等.Xp11.2易位/TFE3基因融合相关性肾癌与肾透明细胞癌的螺旋CT诊断鉴别.现代泌尿外科杂志,2012,17(2):122-124. [16]Argani P, Ladanyi M. The evolving story of renal translocation carcinomas. Am J Clin Pathol, 2006,126(3):332-334. [17]Dijkhuizen T, van den Berg E, Wilbrink M, et al. Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X; autosome translocations. Genes Chromosomes Cancer, 1995,14(1):43-50. [18]Argani P, Antonescu CR, IIIei PB, et al. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. Am J Pathol, 2001,159(1):179-192. [19]Argani P, Antonescu CR, Couturier J, et al. PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol, 2002,26(12):1553-1566. [20]Argani P, Lal P, Hutchinson B, et al. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol, 2003,27(6):750-761. [21]Green WM, Yonescu R, Morsberger L, et al. Utilization of a TFE3 break-apart FISH assay in a renal tumor consultation service. Am J Surg Pathol, 2013,37(8):1150-1163. [22]Rao Q, Williamson SR, Zhang S, et al. TFE3 break-apart FISH has a higher sensitivity for Xp11.2 translocation-associated renal cell carcinoma compared with TFE3 or cathepsin K immunohistochemical staining alone: expanding the morphologic spectrum. Am J Surg Pathol, 2013,37(6):804-815. [23]Qu Y, Gu C, Wang H, et al. Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population. Sci Rep, 2016,6:21677. [24]Choueiri TK, Lim ZD, Hirsch MS, et al. Vascular endothelial growth factor-targeted therapy for the treatment of adult metastatic Xpll. 2 translocation renal cell carcinoma. Cancer, 2010,116(22):5219-5225. [25]He J, Chen X, Gan W, et al. Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions: clinical experience and literature review. Future Oncol, 2015,11(24):3243-3252. [26]瞿元元,张海梁,叶定伟,等.Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特征分析.中华泌尿外科杂志,2014,35(9):641-644. [27]Tsuda M, Davis IJ, Argani P, et al. TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition. Cancer Res, 2007,67(3):919-929. [28]Bambury RM, Battley JE, McCarthy A, et al. Translocation renal cell carcinomas: an evolving entity and a member of the microphthalmia transcription factor-associated family of tumors. Clin Genitourin Cancer, 2013,11(3):357-361. [29]李世超,黄庆波,巩会杰,等. Xp11.2易位/TFE3融合基因相关性肾癌的外科治疗(附8例报告).微创泌尿外科杂志,2015,4(2):114-116. [30]Su HH, Sung MT, Chiang PH, et al. The preliminary experiences of translocation renal cell carcinoma and literature review. Kaohsiung J Med Sci, 2014,30(8):402-408. [31]Ljungberg B, Bensalah K, Canfield S, et al. EAU guidelines on renal cell carcinoma: 2014 update. Eur Urol, 2015,67(5):913-924.
