MITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance

Int J Mol Sci. 2022 May 26;23(11):6001. doi: 10.3390/ijms23116001.


Microphthalmia-associated transcription factor (MITF) is an important regulator of melanogenesis and melanocyte development. Although it has been studied extensively in cutaneous melanoma, the role of MITF in uveal melanoma (UM) has not been explored in much detail. We review the literature about the role of MITF in normal melanocytes, in cutaneous melanoma, and in UM. In normal melanocytes, MITF regulates melanocyte development, melanin synthesis, and melanocyte survival. The expression profile and the behaviour of MITF-expressing cells suggest that MITF promotes local proliferation and inhibits invasion, inflammation, and epithelial-to-mesenchymal (EMT) transition. Loss of MITF expression leads to increased invasion and inflammation and is more prevalent in malignant cells. Cutaneous melanoma cells switch between MITF-high and MITF-low states in different phases of tumour development. In UM, MITF loss is associated with loss of BAP1 protein expression, which is a marker of poor prognosis. These data indicate a dual role for MITF in benign and malignant melanocytic cells.

Keywords: MITF; cutaneous melanoma; eye; melanocyte; melanoma; oncology; uveal melanoma.

Publication types

  • Review

MeSH terms

  • Humans
  • Inflammation / pathology
  • Melanocytes / metabolism
  • Melanoma* / metabolism
  • Melanoma, Cutaneous Malignant
  • Microphthalmia-Associated Transcription Factor / genetics
  • Microphthalmia-Associated Transcription Factor / metabolism
  • Skin Neoplasms* / pathology
  • Uveal Neoplasms


  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor

Supplementary concepts

  • Uveal melanoma