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...

Descripción completa

Detalles Bibliográficos
Publicado en:Virchows Archiv: European Journal of Pathology Vol. 474; no. 3; pp. 389 - 394
Autores principales: Fukuda, Hironori, Kato, Ikuma, Furuya, Mitsuko, Tanaka, Reiko, Takagi, Toshio, Kondo, Tsunenori, Nagashima, Yoji
Formato: case study pictorial Journal Article
Publicado: Springer Nature Mar2019
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