Xp11.2易位/TFE3基因融合相关性肾癌1例报告及文献复习

陆奇; 傅斌; 刘伟鹏; 张成; 王珊珊; 江懿; 王共先

doi:10.13201/j.issn.1001-1420.2016.10.018

Xp11.2易位/TFE3基因融合相关性肾癌1例报告及文献复习

- 1. 南昌大学第一附属医院泌尿外科(南昌,330006);
- 2. 南昌大学第一附属医院病理科
基金项目:
国家自然科学基金资助项目(编号81460389)

国家自然科学基金重大研究计划资助项目(编号91229119)

详细信息

通讯作者: 王共先,E-mail:wanggx-mr@126.com

中图分类号: R737.11

收稿日期: 2016-03-01

Corresponding author: , E-mail: wanggx-mr@126.com

Received Date: 01 March 2016

摘要

摘要: 目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床表现、诊断及治疗方法。方法:回顾性分析2005年12月~2015年12月收治的1例病理诊断为Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料,并结合最新文献对本病的流行病学、病理学、影像学以及治疗和预后进行总结分析。结果:CT显示肾占位病变,B超检查考虑为错构瘤可能性大。术中冷冻切片病理检查为肾癌,行后腹腔镜肾癌根治性切除术,术后未行其他辅助治疗。病理检查诊断为Xp11.2易位/TFE3基因融合相关性肾癌。随访12个月,未见明显复发或进展征象。结论:Xp11.2易位/TFE3基因融合相关性肾癌是一种临床罕见的易位性肾癌,主要发病于儿童和年轻人。确诊依赖于病理学和免疫组织化学;根治性手术切除为主要治疗方法,预后较差。
- 肾癌 /
- Xp11.2基因 /
- TFE3基因

HTML全文

参考文献(23)

[1]	Eble J N,Sauter G,Epstein J I,et al.World Health Organization classification of tumours.Pathology and genetics of tumors of the urinary system and male genital organs[M].Lyon:IARC Press,2004:23-42.
[2]	Argani P,Ladanyi M.Translocation carcinomas of the kidney[J].Clin Lab Med,2005,25(2):363-378.
[3]	de Jong B,Molenaar I M,Leeuw J A,et al.Cytogenetics of a renal adenocarcinoma in a 2-year-old child[J].Cancer Genet Cytogenet,1986,21(2):165-169.
[4]	Altinok G,Kattar M M,Mohamed A,et al.Pediatric renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions and clinicopathologic associations[J].Pediatr Dev Pathol,2005,8(2):168-180.
[5]	Franzini A,Picozzi S C,Politi P L,et al.A case of renal cancer with TFE3 gene fusion in an elderly man.Clinical,radiological and surgical findings[J].Urol Int,2007,78(2):179-181.
[6]	Barroca H,Castedo S,Vieira J,et al.Altered expression of key cell cycle regulators in renal cell carcinoma associated with Xp11.2 translocation[J].Pathol Res Pract,2009,205(7):466-472.
[7]	Zhong M,De Angelo P,Osborne L,et al.Translocation renal cell carcinomas in adults:a single-institution experience[J].Am J Surg Pathol,2012,36(5):654-662.
[8]	Armah H B,Parwani A V,Surti U,et al.Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19:a case report with review of the literature[J].Diagn Pathol,2009,4:15.
[9]	Argani P,Olgac S,Tickoo S K,et al.Xp11 translocation renal cell carcinoma in adults:expanded clinical,pathologic,and genetic spectrum[J].Am J Surg Pathol,2007,31(8):1149-1160.
[10]	Taskinlar H,Avlan D,Citak C.A rare cause of childhood renal cysts:Xp11.2 translocation renal[J].Can Urol Assoc J,2015,9(1-2):E36-38.
[11]	Salles P G,Soto M Jr.Kidney carcinoma associated with Xp11.2 translocation/TFE3(ASPL-TFE3)gene fusion[J].Int Braz J Urol,2005,31(3):251-254.
[12]	魏维,夏天.Xp11.2易位/TFE3基因融合相关性肾癌1 例及文献分析[J].国际病理科学与临床杂志,2013,33(3):268-272.
[13]	Ross H,Argani P.Xp11 translocation renal cell carcinoma[J].Pathology,2010,42(4):369-373.
[14]	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[J].Am J Surg Pathol,2003,27(6):750-761.
[15]	Gaillot-Durand L,Chevallier M,Colombel M,et al.Diagnosis of Xp11 translocation renal cell carcinomas in adult patients under 50years:interest and pitfalls of automated immunohistochemical detection of TFE3 protein[J].Pathol Res Pract,2013,209(2):83-89.
[16]	Martignoni G,Pea M,Gobbo S,et al.Cathepsin-K immunoreactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas[J].Mod Pathol,2009,22(8):1016-1022.
[17]	Green W M,Yonescu R,Morsberger L,et al.Utilization of a TFE3 break-apart FISH assay in a renal tumor consultation service[J].Am J Surg Pathol,2013,37(8):1150-1163.
[18]	Kurisaki-Arakawa A,Saito T,Takahashi M,et al.A case of bilateral renal cell carcinoma associated with long-term dialysis showing false-positive immunoreactivity for TFE3 as Xp11 translocation renal cell carcinoma[J].Int J Clin Exp Pathol,2013,6(11):2585-2590.
[19]	闫风彩,石峰,周全,等.t(6;11)(p21;q12)转录因子EB基因融合相关性肾细胞癌临床病理观察[J].诊断病理学杂志,2015,2(3):166-169.
[20]	Ljungberg B,Bensalah K,Canfield S,et al.EAU guidelines on renal cell carcinoma:2014 update[J].Eur Urol,2015,67(5):913-924.
[21]	Mansouri D,Dimet S,Couanet D,et al.Renal cell carcinoma with an Xp11.2 translocation in a 16-yearold girl:A case report with cytologic features[J].Diagn Cytopathol,2006,34(11):757-760.
[22]	Jayasinghe C,Siegler N,Leuschner I,et al.Renal cell carcinoma with Xp11.2 translocation in a 7-year-old boy[J].Klin Padiatr,2010,222(3):187-189.
[23]	Geller J I,Argani P,Adeniran A,et al.Translocation renal cell carcinoma:lack of negative impact due to lymph node spread[J].Cancer,2008,112:1607-1616.