Microphthalmia transcription factor (MITF)

Topic Completed: 1 April 2013

Revised: 28 February 2019

Copyright: 2002-2018,, Inc.

PubMed Search: Microphthalmia transcription factor [title]

Lauren N. Stuart, M.D., M.B.A.
Page views in 2018: 3,323
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Cite this page: Stuart L. Microphthalmia transcription factor (MITF). website. Accessed October 18th, 2019.
Definition / general
  • Encodes a transcription factor on chromosome 3p14.1 essential for development and survival of melanocytes (Am J Surg Pathol 2001;25:51)
  • Also known as MI, WS2, CMM8, WS2A, bHLHe32 (Entrez Gene: MITF microphthalmia-associated transcription factor)
  • Plays key role in transcription regulation of pigmentation enzyme genes tyrosinase and tyrosinase-related proteins 1 and 2
  • Acts with Ets family factor PU.1 to activate TRAP gene
  • Regulates expression of cathepsin K in osteoclasts (Mod Pathol 2012;25:100)
  • Regulates function of pancreatic beta cells and may play a role in glucose homeostasis (Diabetes 2013;62:2834)
Clinical features
  • Heterozygous mutations cause Waardenburg syndrome IIA (autosomal dominant, white forelock and hearing loss)
  • Nuclear immunostain
Uses by pathologists
  • Diagnosis of perivascular epithelioid cell tumors including angiomyolipoma (Am J Surg Pathol 2001;25:65)
  • Diagnosis of melanoma and other melanogenic tumors
Microscopic (histologic) images

Images hosted on other servers:
Missing Image

Giant cell tumor of bone, 1C

Positive staining - normal
Positive staining - disease
Negative staining
  • Basal cells, epithelium, peripheral nerve sheath, smooth muscle
  • Atypical fibroxanthomas, carcinoma, fibrohistiocytic lesions (Am J Surg Pathol 2001;25:51), germ cell tumors, malignant peripheral nerve sheath tumor, melanocytic schwannoma, neurofibromas, palisaded and encapsulated neuroma
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