A germline oncogenic MITF mutation and tumor susceptibility

Paillerets BB, Lesueur F, Bertolotto C

Eur. J. Cell Biol. 2014 Jan-Feb;93(1-2):71-5

Abstract

PMID: 24290354

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.