Xp11易位相关性肾细胞癌的研究进展
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摘要
Xp11易位相关性肾细胞癌是存在TFE3基因易位的一种罕见肾细胞癌,与t(6;11)易位相关性肾细胞癌共同归类为MiT家族易位相关性肾细胞癌。随着免疫组织化学法、荧光原位杂交法、逆转录-聚合酶链反应以及RNA测序技术的发展和应用,越来越多的Xp11易位相关性肾细胞癌被诊断和研究,从而对于其在临床病理学、分子遗传学、临床治疗方面有了许多新的认识和进展。本文就近年来Xp11易位相关性肾细胞癌的研究进展进行综述。
Xp11 translocation renal cell carcinoma is a rare renal cell carcinoma subtype harboring a TFE3 translocation, which is grouped into the MiT family translocation renal cell carcinomas together with t(6;11) translocation renal cell carcinomas. With the development and application of immunohistochemistry, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and RNA sequencing, increasingly more Xp11 translocation renal cell carcinomas have been diagnosed and studied, and many new insights have been elucidated and advances have been made in clinicopathology, molecular genetics, and clinical treatment. The latest progress in Xp11 translocation renal cell carcinoma research is introduced and reviewed in this paper.
Xp11 translocation renal cell carcinoma is a rare renal cell carcinoma subtype harboring a TFE3 translocation, which is grouped into the MiT family translocation renal cell carcinomas together with t(6;11) translocation renal cell carcinomas. With the development and application of immunohistochemistry, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and RNA sequencing, increasingly more Xp11 translocation renal cell carcinomas have been diagnosed and studied, and many new insights have been elucidated and advances have been made in clinicopathology, molecular genetics, and clinical treatment. The latest progress in Xp11 translocation renal cell carcinoma research is introduced and reviewed in this paper.
引文
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[3]Kauffman EC,Ricketts CJ,Rais-Bahrami S,et al.Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers[J].Nat Rev Urol,2014,11(8):465-475.
[4]Saleeb RM,Srigley JR,Sweet J,et al.Melanotic Mi T family translocation neoplasms:expanding the clinical and molecular spectrum of this unique entity of tumors[J].Pathol Res Pract,2017,213(11):1412-1418.
[5]Wu A,Kunju LP,Cheng L,et al.Renal cell carcinoma in children and young adults:analysis of clinicopathological,immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes[J].Histopathology,2008,53(5):533-544.
[6]Komai Y,Fujiwara 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.
[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]Argani P.Mi T family translocation renal cell carcinoma[J].Semin Diagn Pathol,2015,32(2):103-113.
[9]Argani P,LaéM,Ballard ET,et al.Translocation carcinomas of the kidney after chemotherapy in childhood[J].J Clin Oncol,2006,24(10):1529-1534.
[10]Suzigan S,Drut R,Faria P,et al.Xp11 translocation carcinoma of the kidney presenting with multilocular cystic renal cell carcinomalike features[J].Int J Surg Pathol,2007,15(2):199-203.
[11]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.
[12]Wang XT,Xia QY,Ye SB,et al.RNA sequencing of Xp11 translocationassociated cancers reveals novel gene fusions and distinctive clinicopathologic correlations[J].Mod Pathol,2018,31(9):1346-1360.
[13]Skala SL,Xiao H,Udager AM,et al.Detection of 6 TFEB-amplified renal cell carcinomas and 25 renal cell carcinomas with MITF translocations:systematic morphologic analysis of 85 cases evaluated by clinical TFE3and TFEB FISH assays[J].Mod Pathol,2018,31(1):179-197.
[14]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[J].Am J Surg Pathol,2013,37(6):804-815.
[15]Green WM,Yonescu R,Morsberger L,et al.Utilization of a TFE3 breakapart FISH assay in a renal tumor consultation service[J].Am J Surg Pathol,2013,37(8):1150-1163.
[16]Xia QY,Wang XT,Zhan XM,et al.Xp11 translocation renal cell carcinomas(RCCs)with RBM10-TFE3 gene fusion demonstrating melanotic features and overlapping morphology with t(6;11)RCC:interest and diagnostic pitfall in detecting a paracentric inversion of TFE3[J].Am JSurg Pathol,2017,41(5):663-676.
[17]Argani P,Zhong M,Reuter VE,et al.TFE3-fusion variant analysis defines specific clinicopathologic associations among Xp11 translocation cancers[J].Am J Surg Pathol,2016,40(6):723-737.
[18]Classe M,Malouf GG,Su X,et al.Incidence,clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas[J].Histopathology,2017,70(7):1089-1097.
[19]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.
[20]Fukuda H,Kato I,Furuya M,et al.A novel partner of TFE3 in the Xp11translocation renal cell carcinoma:clinicopathological analyses and detection of EWSR1-TFE3 fusion[J].Virchows Arch,2019,474(3):389-393.
[21]Pei J,Cooper H,Flieder DB,et al.NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas,new members of MiT family translocation renal cell carcinoma[J].Mod Pathol,2019,32(5):710-716.
[22]Malouf GG,Camparo P,Oudard S,et al.Targeted agents in metastatic Xp11 translocation/TFE3 gene fusion renal cell carcinoma(RCC):a report from the Juvenile RCC Network[J].Ann Oncol,2010,21(9):1834-1838.
[23]Numakura K,Tsuchiya N,Yuasa T,et al.A case study of metastatic Xp11.2 translocation renal cell carcinoma effectively treated with sunitinib[J].Int J Clin Oncol,2011,16(5):577-580.
[24]Koshkin VS,Barata PC,Zhang T,et al.Clinical activity of nivolumab in patients with non-clear cell renal cell carcinoma[J].J Immunother Cancer,2018,6(1):9.
[2]Slade L,Pulinilkunnil T.The Mi TF/TFE family of transcription factors:master regulators of organelle signaling,metabolism,and stress adaptation[J].Mol Cancer Res,2017,15(12):1637-1643.
[3]Kauffman EC,Ricketts CJ,Rais-Bahrami S,et al.Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers[J].Nat Rev Urol,2014,11(8):465-475.
[4]Saleeb RM,Srigley JR,Sweet J,et al.Melanotic Mi T family translocation neoplasms:expanding the clinical and molecular spectrum of this unique entity of tumors[J].Pathol Res Pract,2017,213(11):1412-1418.
[5]Wu A,Kunju LP,Cheng L,et al.Renal cell carcinoma in children and young adults:analysis of clinicopathological,immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes[J].Histopathology,2008,53(5):533-544.
[6]Komai Y,Fujiwara 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.
[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]Argani P.Mi T family translocation renal cell carcinoma[J].Semin Diagn Pathol,2015,32(2):103-113.
[9]Argani P,LaéM,Ballard ET,et al.Translocation carcinomas of the kidney after chemotherapy in childhood[J].J Clin Oncol,2006,24(10):1529-1534.
[10]Suzigan S,Drut R,Faria P,et al.Xp11 translocation carcinoma of the kidney presenting with multilocular cystic renal cell carcinomalike features[J].Int J Surg Pathol,2007,15(2):199-203.
[11]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.
[12]Wang XT,Xia QY,Ye SB,et al.RNA sequencing of Xp11 translocationassociated cancers reveals novel gene fusions and distinctive clinicopathologic correlations[J].Mod Pathol,2018,31(9):1346-1360.
[13]Skala SL,Xiao H,Udager AM,et al.Detection of 6 TFEB-amplified renal cell carcinomas and 25 renal cell carcinomas with MITF translocations:systematic morphologic analysis of 85 cases evaluated by clinical TFE3and TFEB FISH assays[J].Mod Pathol,2018,31(1):179-197.
[14]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[J].Am J Surg Pathol,2013,37(6):804-815.
[15]Green WM,Yonescu R,Morsberger L,et al.Utilization of a TFE3 breakapart FISH assay in a renal tumor consultation service[J].Am J Surg Pathol,2013,37(8):1150-1163.
[16]Xia QY,Wang XT,Zhan XM,et al.Xp11 translocation renal cell carcinomas(RCCs)with RBM10-TFE3 gene fusion demonstrating melanotic features and overlapping morphology with t(6;11)RCC:interest and diagnostic pitfall in detecting a paracentric inversion of TFE3[J].Am JSurg Pathol,2017,41(5):663-676.
[17]Argani P,Zhong M,Reuter VE,et al.TFE3-fusion variant analysis defines specific clinicopathologic associations among Xp11 translocation cancers[J].Am J Surg Pathol,2016,40(6):723-737.
[18]Classe M,Malouf GG,Su X,et al.Incidence,clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas[J].Histopathology,2017,70(7):1089-1097.
[19]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.
[20]Fukuda H,Kato I,Furuya M,et al.A novel partner of TFE3 in the Xp11translocation renal cell carcinoma:clinicopathological analyses and detection of EWSR1-TFE3 fusion[J].Virchows Arch,2019,474(3):389-393.
[21]Pei J,Cooper H,Flieder DB,et al.NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas,new members of MiT family translocation renal cell carcinoma[J].Mod Pathol,2019,32(5):710-716.
[22]Malouf GG,Camparo P,Oudard S,et al.Targeted agents in metastatic Xp11 translocation/TFE3 gene fusion renal cell carcinoma(RCC):a report from the Juvenile RCC Network[J].Ann Oncol,2010,21(9):1834-1838.
[23]Numakura K,Tsuchiya N,Yuasa T,et al.A case study of metastatic Xp11.2 translocation renal cell carcinoma effectively treated with sunitinib[J].Int J Clin Oncol,2011,16(5):577-580.
[24]Koshkin VS,Barata PC,Zhang T,et al.Clinical activity of nivolumab in patients with non-clear cell renal cell carcinoma[J].J Immunother Cancer,2018,6(1):9.