Xp 11.2易位/TFE3基因融合相关性肾癌3例并文献复习
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摘要
目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的诊断、病理特征、治疗及预后。方法回顾分析2014-10/2016-1于作者医院确诊的Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料,共3例,结合文献对该疾病的临床表现、影像学特点、治疗及预后进行总结。结果 3例患者无明显共性的特异性临床表现,术后病理组织学有一定差异,免疫组织化学均提示TFE3(+);至今1例随访42个月,1例30个月,1例3个月,均未见明显复发及转移表现。结论 Xp11.2易位/TFE3基因融合相关性肾癌是一种相对罕见的肾脏恶性肿瘤,缺乏特异性临床和影像学表现,主要靠术后病理和基因检测诊断,免疫组织化学检测TFE3(+)有助于明确诊断。
Objective To investigate the diagnosis, pathological characteristics, treatment and prognosis of renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion. Methods A total of 3 cases with renal cell carcinoma associated with Xpll.2 translocation/TFE3 gene fusion who diagnosed in authors' hospital from October 2014 to January 2016 were retrospectively analyzed. The clinical manifestations, imaging characteristics, treatment and prognosis of the disease were summarized in the literatures. Results There was no obvious common clinical manifestation in 3 cases. There were some differences in histopathology after operation, and immunohistochemistry showed TFE3( +). The three cases had been followed up for 42 months,30 months, 3 months, respectively, without recurrence and metastasis,Conclusion Renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion is a rare malignant tumor. It lacks specific clinical and imaging manifestation, clinical diagnosis depends on postoperative pathology and gene detection.Immunohistochemical detection of TFE3( +) is helpful for definitive diagnosis.
Objective To investigate the diagnosis, pathological characteristics, treatment and prognosis of renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion. Methods A total of 3 cases with renal cell carcinoma associated with Xpll.2 translocation/TFE3 gene fusion who diagnosed in authors' hospital from October 2014 to January 2016 were retrospectively analyzed. The clinical manifestations, imaging characteristics, treatment and prognosis of the disease were summarized in the literatures. Results There was no obvious common clinical manifestation in 3 cases. There were some differences in histopathology after operation, and immunohistochemistry showed TFE3( +). The three cases had been followed up for 42 months,30 months, 3 months, respectively, without recurrence and metastasis,Conclusion Renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion is a rare malignant tumor. It lacks specific clinical and imaging manifestation, clinical diagnosis depends on postoperative pathology and gene detection.Immunohistochemical detection of TFE3( +) is helpful for definitive diagnosis.
引文
[1]张智宇,柳玉华,赵红伟,等.Xp11.2易位/TFE3基因融合相关性肾癌1例报告并文献复习[J].泌尿外科杂志(电子版),2017,9(1):61-63
[2]Armah HB,Parwani AV,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
[3]Choo MS,Jeong CW.Song C,et al.Clinicopathologic characteristics and prognosis of Xp11.2 translocation renal cell carcinoma:multicenter,propensity score matching analysis[J].Clin Genitourin Cancer,2017,15(5):e819-e825
[4]Cheng X,Gan W,Zhang G,et al.ClinicaI characteristics of Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma:a systematic review and meta-analysis of observational studies[J].BMCUrol,2016,16(1):40
[5]Xia QY,Wang Z,Chen N,et al.Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion:morphology,prognosis,and potential pitfall in detecting TFE3 gene rearrangement[J].Mod Pathol,2017,30(3):416-426
[6]陶金,张雪培.Xp 11.2易位/TFE3基因融合相关性肾癌的研究进展[J].临床泌尿外科杂志,2014,27(2):172-174
[7]雷祎,刘芳,范承启,等.Xp11.2易位/TFE3基因融合相关性肾癌CT表现及病理对照分析[J].放射学实践,2017,32(5):504-508
[8]程瑾,陈皓,史景丽,等.Xp 11.2易位/TFE3基因融合相关性肾癌的CT和MRI表现[J].放射学实践,2018,33(8):811-815
[9]牛越,袁帅,舒博,等.Xp11.2易位/TFE3基因融合相关性肾癌7例报告并文献复习[J].临床泌尿外科杂志,2014,29(7):584-586
[10]饶秋,周晓军,吴波,等.Xp11.2易位/TFE3基因融合相关性肾癌的病理特征与临床分析[J].中华病理学杂志,2007,36(4):244-246
[11]白继花,莫海英,张煜君,等.Xp11.2易位/TFE3基因融合相关性肾癌二例临床病理分析并文献复习[J].肿瘤研究与临床,2017,29(12):846-849
[12]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[J].中华泌尿外科杂志,2014,35(9):641-644
[13]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
[14]He J,Chen X,Gan W,et al.Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions:clinical experience and literature review[J].Future Oncol,2015,11(24):3243-3252
[15]Ellis CL,Eble JN,Subhawong AP,et al.Clinical heterogeneity of Xp11 translocation renal cell carcinoma:impact of fusion subtype,age and stage[J].Mod Pathol,2014,27(6):875-886
[16]Xiong L,Chen X,Liu N,et al.PRCC-TFE3 dual-fusion FISH assay:A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue[J].PLoS One,2017,12(9):e0185337
[17]Argani P,Zhang L,Reuter VE,et al.RBM10-TFE3 Renal Cell Carcinoma:A potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2inversion resulting in false-negative TFE3 FISH[J].Am J Surg Pathol,2017,41(5):655-662
[18]Xia QY,Wang XT,Ye SB,et al.Novel gene fusion of PRCC-MITF defines a new member of MiT family translocation renal cell carcinoma:clinicopathoIogical analysis and detection of the gene fusion by RNA sequencing and FISH[J].Histopathology,2018,72(5):786-794
[19]Armah HB,Parwani AV.Xp11.2translocation renal cell carcinoma[J].Arch Pathol Lab Med,2010,134(1):124-129
[20]孙永得.Xp11.2易位/TFE3基因融合相关性肾癌的临床特点及生存分析[D].郑州:郑州大学,2017
[21]东结,陈博,李汉忠,等.Xp11.2易位/TFE3基因融合相关性肾癌六例报告并文献复习[J].中华泌尿外科杂志,2016,37(10):745-747
[22]甘卫东,杨荣,屈峰,等.Xp11.2易位/TFE3基因融合相关性肾癌15例分析[J].中华外科杂志,2014,52(2):153-154
[23]马文亮,刘宁,庄文渊,等.Xp11.2易位/TFE3基因融合相关性肾癌单中心临床分析[J].中华医学杂志,2018,98(38):3068-3073
[24]Komai Y,Fujiwam M,Fujii Y,et al.Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry[J].Clin Cancer Res,2009,15(4):1170-1176
[25]Ellis CL,Eble JN,Subhawong AP,et al.Clinical heterogeneity of Xp11 translocation renal cell carcinoma:impact of fusion subtype,age,and stage[J].Mod Pathol,2014,27(6):875-886
[2]Armah HB,Parwani AV,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
[3]Choo MS,Jeong CW.Song C,et al.Clinicopathologic characteristics and prognosis of Xp11.2 translocation renal cell carcinoma:multicenter,propensity score matching analysis[J].Clin Genitourin Cancer,2017,15(5):e819-e825
[4]Cheng X,Gan W,Zhang G,et al.ClinicaI characteristics of Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma:a systematic review and meta-analysis of observational studies[J].BMCUrol,2016,16(1):40
[5]Xia QY,Wang Z,Chen N,et al.Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion:morphology,prognosis,and potential pitfall in detecting TFE3 gene rearrangement[J].Mod Pathol,2017,30(3):416-426
[6]陶金,张雪培.Xp 11.2易位/TFE3基因融合相关性肾癌的研究进展[J].临床泌尿外科杂志,2014,27(2):172-174
[7]雷祎,刘芳,范承启,等.Xp11.2易位/TFE3基因融合相关性肾癌CT表现及病理对照分析[J].放射学实践,2017,32(5):504-508
[8]程瑾,陈皓,史景丽,等.Xp 11.2易位/TFE3基因融合相关性肾癌的CT和MRI表现[J].放射学实践,2018,33(8):811-815
[9]牛越,袁帅,舒博,等.Xp11.2易位/TFE3基因融合相关性肾癌7例报告并文献复习[J].临床泌尿外科杂志,2014,29(7):584-586
[10]饶秋,周晓军,吴波,等.Xp11.2易位/TFE3基因融合相关性肾癌的病理特征与临床分析[J].中华病理学杂志,2007,36(4):244-246
[11]白继花,莫海英,张煜君,等.Xp11.2易位/TFE3基因融合相关性肾癌二例临床病理分析并文献复习[J].肿瘤研究与临床,2017,29(12):846-849
[12]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[J].中华泌尿外科杂志,2014,35(9):641-644
[13]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
[14]He J,Chen X,Gan W,et al.Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions:clinical experience and literature review[J].Future Oncol,2015,11(24):3243-3252
[15]Ellis CL,Eble JN,Subhawong AP,et al.Clinical heterogeneity of Xp11 translocation renal cell carcinoma:impact of fusion subtype,age and stage[J].Mod Pathol,2014,27(6):875-886
[16]Xiong L,Chen X,Liu N,et al.PRCC-TFE3 dual-fusion FISH assay:A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue[J].PLoS One,2017,12(9):e0185337
[17]Argani P,Zhang L,Reuter VE,et al.RBM10-TFE3 Renal Cell Carcinoma:A potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2inversion resulting in false-negative TFE3 FISH[J].Am J Surg Pathol,2017,41(5):655-662
[18]Xia QY,Wang XT,Ye SB,et al.Novel gene fusion of PRCC-MITF defines a new member of MiT family translocation renal cell carcinoma:clinicopathoIogical analysis and detection of the gene fusion by RNA sequencing and FISH[J].Histopathology,2018,72(5):786-794
[19]Armah HB,Parwani AV.Xp11.2translocation renal cell carcinoma[J].Arch Pathol Lab Med,2010,134(1):124-129
[20]孙永得.Xp11.2易位/TFE3基因融合相关性肾癌的临床特点及生存分析[D].郑州:郑州大学,2017
[21]东结,陈博,李汉忠,等.Xp11.2易位/TFE3基因融合相关性肾癌六例报告并文献复习[J].中华泌尿外科杂志,2016,37(10):745-747
[22]甘卫东,杨荣,屈峰,等.Xp11.2易位/TFE3基因融合相关性肾癌15例分析[J].中华外科杂志,2014,52(2):153-154
[23]马文亮,刘宁,庄文渊,等.Xp11.2易位/TFE3基因融合相关性肾癌单中心临床分析[J].中华医学杂志,2018,98(38):3068-3073
[24]Komai Y,Fujiwam M,Fujii Y,et al.Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry[J].Clin Cancer Res,2009,15(4):1170-1176
[25]Ellis CL,Eble JN,Subhawong AP,et al.Clinical heterogeneity of Xp11 translocation renal cell carcinoma:impact of fusion subtype,age,and stage[J].Mod Pathol,2014,27(6):875-886