A germline oncogenic MITF mutation and tumor susceptibility

Eur J Cell Biol. 2014 Jan-Feb;93(1-2):71-5. doi: 10.1016/j.ejcb.2013.10.002. Epub 2013 Oct 26.

Abstract

MITF (Microphthalmia-associated transcription factor) is a lineage specific transcription factor that plays a critical role in melanocyte homeostasis and whose deregulation has been shown to contribute to melanoma disease. A germline mutation in MITF, impairing SUMOylation and predisposing to cutaneous malignant melanoma, was recently identified. Interestingly, an association of the MITF mutation with coexisting melanoma and renal cell carcinoma was also shown. Collectively, these data suggest that MITF has an important oncogenic function in tumorigenesis of multiple tissues/melanocytes and kidney cells.

Keywords: MITF; Melanoma; Mutation.

Publication types

  • Review

MeSH terms

  • Carcinogenesis / genetics
  • Carcinoma, Renal Cell / complications
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / pathology
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Kidney Neoplasms / complications
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Melanoma / complications
  • Melanoma / genetics*
  • Melanoma / pathology
  • Melanoma, Cutaneous Malignant
  • Microphthalmia-Associated Transcription Factor / genetics*
  • Skin Neoplasms / complications
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Sumoylation

Substances

  • Microphthalmia-Associated Transcription Factor