A novel partner of TFE3 in the Xp11 translocation renal cell carcinoma: <bold>c</bold>linicopathological analyses and detection of EWSR1-TFE3 fusion

被引：30

作者：

Fukuda, Hironori ^{[1
]}

Kato, Ikuma ^{[2
]}

Furuya, Mitsuko ^{[2
]}

Tanaka, Reiko ^{[3
]}

Takagi, Toshio ^{[1
]}

Kondo, Tsunenori ^{[1
,4
]}

Nagashima, Yoji ^{[5
]}

机构：

[1] Tokyo Womens Med Univ, Dept Urol, Tokyo, Japan

[2] Yokohama City Univ, Grad Sch Med, Dept Mol Pathol, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan

[3] Chiba Univ, Med Mycol Res Ctr, Chiba, Japan

[4] Tokyo Womens Med Univ, East Med Ctr, Dep Urol, Tokyo, Japan

[5] Tokyo Womens Med Univ, Dept Surg Pathol, Tokyo, Japan

来源：

VIRCHOWS ARCHIV | 2019年 / 474卷 / 03期

关键词：

Chimeric transcript; EWSR1; Microphthalmia-associated transcription factor (MiTF); TFE3; Xp11 translocation renal cell carcinoma; REARRANGEMENT;

D O I：

10.1007/s00428-018-2509-8

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

The renal cell carcinomas associated with Xp11 translocations (Xp11 translocation RCCs) harbor gene fusions involving TFE3, a member of the microphthalmia-associated transcription factor (MiTF) family. In the present study, we identified a novel partner of TFE3, Ewing sarcoma breakpoint region 1 (EWSR1), in an Xp11 translocation RCC. A 57-year-old Japanese woman without special disease history was referred to us for treatment of an RCC. The resected tumor displayed an alveolar growth pattern with high-grade nuclei. The tumor was diffusely positive for TFE3 and cathepsin K. Anchored multiplex PCR revealed a novel fusion, EWSR1-TFE3. Fluorescent in situ hybridization analysis demonstrated the rearrangements of EWSR1 and TFE3. RT-PCR analysis confirmed the chimeric transcript. No neoplasm with EWSR1-TFE3 has been reported so far, in any organ. The results will expand the genomic spectrums of Xp11 translocation RCCs and contribute to better understanding of the roles of the MiTF family in the oncogenic process.

引用

页码：389 / 393

页数：5

共 15 条

[1] EWSR1-ATF1 Fusion Is a Novel and Consistent Finding in Hyalinizing Clear-Cell Carcinoma of Salivary Gland [J].

Antonescu, Cristina R. ;

Katabi, Nora ;

Zhang, Lei ;

Sung, Yun Shao ;

Seethala, Raja R. ;

Jordan, Richard C. ;

Perez-Ordonez, Bayardo ;

Have, Cherry ;

Asa, Sylvia L. ;

Leong, Iona T. ;

Bradley, Grace ;

Klieb, Hagen ;

Weinreb, Ilan .

GENES CHROMOSOMES & CANCER, 2011, 50 (07) :559-570

[2] PRCC-TFE3 renal carcinomas -: Morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21) [J].

Argani, P ;

Antonescu, CR ;

Couturier, J ;

Fournet, JC ;

Sciot, R ;

Debiec-Rychter, M ;

Hutchinson, B ;

Reuter, VE ;

Boccon-Gibod, L ;

Timmons, C ;

Hafez, N ;

Ladanyi, M .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (12) :1553-1566

[3]

Argani P, 2016, AM J SURG PATHOL, V40, P723, DOI 10.1097/PAS.0000000000000631

[4] The Classification of Pediatric and Young Adult Renal Cell Carcinomas Registered on the Children's Oncology Group (COG) Protocol AREN03B2 After Focused Genetic Testing [J].

Cajaiba, Mariana M. ;

Dyer, Lisa M. ;

Geller, James I. ;

Jennings, Lawrence J. ;

George, David ;

Kirschmann, Dawn ;

Rohan, Stephen M. ;

Cost, Nicholas G. ;

Khanna, Geetika ;

Mullen, Elizabeth A. ;

Dome, Jeffrey S. ;

Fernandez, Conrad V. ;

Perlman, Elizabeth J. .

CANCER, 2018, 124 (16) :3381-3389

[5] Comprehensivemolecular characterization of clear cell renal cell carcinoma [J].

Creighton, Chad J. ;

Morgan, Margaret ;

Gunaratne, Preethi H. ;

Wheeler, David A. ;

Gibbs, Richard A. ;

Robertson, A. Gordon ;

Chu, Andy ;

Beroukhim, Rameen ;

Cibulskis, Kristian ;

Signoretti, Sabina ;

Vandin, Fabio ;

Wu, Hsin-Ta ;

Raphael, Benjamin J. ;

Verhaak, Roel G. W. ;

Tamboli, Pheroze ;

Torres-Garcia, Wandaliz ;

Akbani, Rehan ;

Weinstein, John N. ;

Reuter, Victor ;

Hsieh, James J. ;

Brannon, A. Rose ;

Hakimi, A. Ari ;

Jacobsen, Anders ;

Ciriello, Giovanni ;

Reva, Boris ;

Ricketts, Christopher J. ;

Linehan, W. Marston ;

Stuart, Joshua M. ;

Rathmell, W. Kimryn ;

Shen, Hui ;

Laird, Peter W. ;

Muzny, Donna ;

Davis, Caleb ;

Morgan, Margaret ;

Xi, Liu ;

Chang, Kyle ;

Kakkar, Nipun ;

Trevino, Lisa R. ;

Benton, Susan ;

Reid, Jeffrey G. ;

Morton, Donna ;

Doddapaneni, Harsha ;

Han, Yi ;

Lewis, Lora ;

Dinh, Huyen ;

Kovar, Christie ;

Zhu, Yiming ;

Santibanez, Jireh ;

Wang, Min ;

Hale, Walker .

NATURE, 2013, 499 (7456) :43-+

[6] Clinical heterogeneity of Xp11 transiocation renal cell carcinoma: impact of fusion subtype, age, and stage [J].

Ellis, Carla L. ;

Eble, Ellisijohn N. ;

Subhawong, Andrea P. ;

Martignoni, Guido ;

Zhong, Minghao ;

Ladanyi, Marc ;

Epstein, Jonathan I. ;

Netto, George J. ;

Argani, Pedram .

MODERN PATHOLOGY, 2014, 27 (06) :875-886

[7] Molecular Diagnosis in Ewing Family Tumors The Rizzoli Experience-222 Consecutive Cases in Four Years [J].

Gamberi, Gabriella ;

Cocchi, Stefania ;

Benini, Stefania ;

Magagnoli, Giovanna ;

Morandi, Luca ;

Kreshak, Jennifer ;

Gambarotti, Marco ;

Picci, Piero ;

Zanella, Licciana ;

Alberghini, Marco .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2011, 13 (03) :313-324

[8] Comprehensive Exploration of Novel Chimeric Transcripts in Clear Cell Renal Cell Carcinomas Using Whole Transcriptome Analysis [J].

Gotoh, Masahiro ;

Ichikawa, Hitoshi ;

Arai, Eri ;

Chiku, Suenori ;

Sakamoto, Hiromi ;

Fujimoto, Hiroyuki ;

Hiramoto, Masaki ;

Nammo, Takao ;

Yasuda, Kazuki ;

Yoshida, Teruhiko ;

Kanai, Yae .

GENES CHROMOSOMES & CANCER, 2014, 53 (12) :1018-1032

[9] Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma [J].

Linehan, W. Marston ;

Spellman, Paul T. ;

Ricketts, Christopher J. ;

Creighton, Chad J. ;

Fei, Suzanne S. ;

Davis, Caleb ;

Wheeler, David A. ;

Murray, Bradley A. ;

Schmidt, Laura ;

Vocke, Cathy D. ;

Peto, Myron ;

Al Mamun, Abu Amar M. ;

Shinbrot, Eve ;

Sethi, Anurag ;

Brooks, Samira ;

Rathmell, W. Kimryn ;

Brooks, Angela N. ;

Hoadley, Katherine A. ;

Robertson, A. Gordon ;

Brooks, Denise ;

Bowlby, Reanne ;

Sadeghi, Sara ;

Shen, Hui ;

Weisenberger, Daniel J. ;

Bootwalla, Moiz ;

Baylin, Stephen B. ;

Laird, Peter W. ;

Cherniack, Andrew D. ;

Saksena, Gordon ;

Haake, Scott ;

Li, Jun ;

Liang, Han ;

Lu, Yiling ;

Mills, Gordon B. ;

Akbani, Rehan ;

Leiserson, Mark D. M. ;

Raphael, Benjamin J. ;

Anur, Pavana ;

Bottaro, Donald ;

Albiges, Laurence ;

Barnabas, Nandita ;

Choueiri, Toni K. ;

Czerniak, Bogdan ;

Godwin, Andrew K. ;

Hakimi, A. Ari ;

Ho, Thai H. ;

Hsieh, James ;

Ittmann, Michael ;

Kim, William Y. ;

Krishnan, Bhavani .

NEW ENGLAND JOURNAL OF MEDICINE, 2016, 374 (02) :135-145

[10] Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions [J].

Martignoni, Guido ;

Gobbo, Stefano ;

Camparo, Philippe ;

Brunelli, Matteo ;

Munari, Enrico ;

Segala, Diego ;

Pea, Maurizio ;

Bonetti, Franco ;

Illei, Peter B. ;

Netto, Georges J. ;

Ladanyi, Marc ;

Chilosi, Marco ;

Argani, Pedram .

MODERN PATHOLOGY, 2011, 24 (10) :1313-1319

← 1 2 →