title: Translocation carcinomas of the kidney.
abstract: A significant proportion of RCCs of children and young adults bear specific chromosome translocations that result in gene fusions that involve members of the MiTF/TFE transcription factor family. These include the Xp11-translocation carcinomas, which bear TFE3 gene fusions, and the renal carcinomas with the t(6;11)(p21;q12), which bear an Alpha-TFEB gene fusion. Both types of translocation result in overexpression of the fusion gene products, such that nuclear labeling for TFE3 or TFEB by immunohistochemistry is a sensitive and specific marker of these respective tumor types. The clinical behavior of these neoplasms relative to conventional, adult-type renal carcinomas remains to be determined, and will be an important area of future investigation.
authors.affiliation: Department of Surgical Pathology, The Johns Hopkins Hospital, Baltimore, MD 21231-2410, USA. pargani@jhmi.edu
authors.forename: Pedram
authors.initials: P
authors.lastname: Argani
authors.forename: Marc
authors.initials: M
authors.lastname: Ladanyi
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002292:Carcinoma, Renal Cell / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007680:Kidney Neoplasms / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C415042:PRCC protein, human; C069203:TFE3 protein, human; C064972:TFEB protein, human; D014157:Transcription Factors