A novel partner of TFE3 in the Xp11 translocation renal cell carcinoma: clinicopathological analyses and detection of EWSR1-TFE3 fusion.
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 (EW...
| Publicado en: | Virchows Archiv: European Journal of Pathology Vol. 474; no. 3; pp. 389 - 394 |
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| Autores principales: | , , , , , , |
| Formato: | case study pictorial Journal Article |
| Publicado: |
Springer Nature
Mar2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=135149193&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 135149193 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09456317 O1Z jtl: Virchows Archiv: European Journal of Pathology issn: 09456317 maglogo: N pubinfo: dt: Mar2019 vid: 474 iid: 3 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 135149193 135149193 NLM30552521 135149193 10.1007/s00428-018-2509-8 NLM30552521 135149193 ppf: 389 ppct: 5 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: A novel partner of TFE3 in the Xp11 translocation renal cell carcinoma: clinicopathological analyses and detection of EWSR1-TFE3 fusion. aug: au: Fukuda, Hironori Kato, Ikuma Furuya, Mitsuko Tanaka, Reiko Takagi, Toshio Kondo, Tsunenori Nagashima, Yoji affil: Department of Urology, Tokyo Women's Medical University, Tokyo, Japan sug: subj: Genes Carcinoma, Renal Cell Chromosome Disorders Proteins Chromosomes Kidney Neoplasms Polymerase Chain Reaction Disease Susceptibility Immunohistochemistry Female Phenotype Middle Age Kidney Neoplasms Pathology Carcinoma, Renal Cell Pathology Proteins Analysis In Situ Hybridization, Fluorescence Carcinoma, Renal Cell Therapy Neoplasm Grading Kidney Neoplasms Therapy Middle Aged: 45-64 years Female ab: 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. pubtype: Academic Journal doctype: case study pictorial Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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