[TFEB-amplified renal cell carcinoma. A case report and review of the literature]

Rev Esp Patol. 2018 Oct-Dec;51(4):248-252. doi: 10.1016/j.patol.2018.01.001. Epub 2018 Feb 16.
[Article in Spanish]

Abstract

Renal carcinomas associated with translocation of transcription factors of the MiT/TFE family include, according to the latest World Health Organization classification, carcinomas with Xp11 translocation that involve the TFE3 gene and those with translocation t(6;11)(p21;q12) that affect the TFEB gene. Each one of these sub-types have well-defined clinicopathological and molecular characteristics. Currently, progress in molecular techniques has led to the description of neoplasms with molecular changes in these same genes but with alterations different to translocation. Thus, recently, cases have been published of TFEB-amplified renal carcinomas with prognoses that vary from cases associated with translocation and could therefore represent a new entity. We present a case of TFEB-amplified renal carcinoma with a full description of the clinicopathological characteristics and an updated revision of these neoplasms.

Keywords: 6p cromosome; Carcinoma de células renales; Cromosoma 6p; Renal cell carcinoma; TFEB.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Anaplastic Lymphoma Kinase / genetics
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / analysis
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Biomarkers, Tumor / analysis
  • Carcinoma, Renal Cell / chemistry
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Carcinoma, Renal Cell / secondary
  • Chromosome Aberrations
  • Diagnosis, Differential
  • Gene Amplification*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms / chemistry
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Kidney Neoplasms / surgery
  • Male
  • Neoplasm Metastasis
  • Neoplasm Proteins / analysis
  • Neoplasm Proteins / genetics*
  • Nephrectomy
  • Oncogene Proteins, Fusion / genetics
  • Translocation, Genetic

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Biomarkers, Tumor
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • TFEB protein, human
  • ALK protein, human
  • Anaplastic Lymphoma Kinase