A germline oncogenic MITF mutation and tumor susceptibility

• Published in: European journal of cell biology Vol. 93; no. 1-2; pp. 71 - 75
• Main Authors: Paillerets, Brigitte Bressac-de, Lesueur, Fabienne, Bertolotto, Corine
• Format: Journal Article
• Language: English
• Published: Germany Elsevier GmbH 01.01.2014; Elsevier
• Subjects: Cancer; 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; Life Sciences; Melanoma; Melanoma - complications; Melanoma - genetics; Melanoma - pathology; Melanoma, Cutaneous Malignant; Microphthalmia-Associated Transcription Factor - genetics; MITF; Mutation; Skin Neoplasms - complications; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Sumoylation; MITF; Melanoma; Mutation
• ISSN: 0171-9335; 1618-1298
• DOI: 10.1016/j.ejcb.2013.10.002

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.