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MITF tumor syndrome
Other Resources UpToDate PubMed

MITF tumor syndrome

Contributors: Catherine Laferté, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

MITF (microphthalmia-associated transcription factor) tumor syndrome is a genetic syndrome that predisposes to the development of melanoma and renal cell cancer. Affected individuals have been found to have a particular missense mutation in the MITF gene (318 glu-to-lys) that has been reported to increase the risk of melanoma and renal cell cancer by up to 5 times that of the unaffected population. MITF is a transcription factor that is involved in cell cycle regulation; the mutation alters the transcription of MITF target genes.

Affected kindreds have been reported to have lighter skin phototypes, non-blue eye color, higher nevus count (mainly reticular pattern under dermoscopy), and onset of melanoma in those younger than 40 years. Some cohorts have demonstrated predominance of nevi greater than 5 mm in diameter, atypical nevi, multiple primary melanomas, and amelanotic melanomas. While some studies found an association with darker hair colors, others did not.

Codes

ICD10CM:
Z15.09 – Genetic susceptibility to other malignant neoplasm

SNOMEDCT:
770896003 – MITF-related melanoma and renal cell carcinoma predisposition syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Other hereditary melanoma syndromes:
  • FAMMM syndrome – Widespread distribution of multiple nevi, with many appearing atypical in size, shape, and color. Patients or family members may have a history of pancreatic cancer
  • BAP1 tumor syndrome – BAP-omas are dome-shaped, skin-colored-to-red-brown papules, plaques, or nodules on the head / neck, trunk, and extremities. They occur in concert with multiple malignancies, including mesothelioma, and cutaneous and uveal melanoma in affected kindreds
  • TERT / shelterin tumor syndrome
Other hereditary syndromes predisposing to renal cell carcinoma:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/30/2021
Last Updated:01/19/2022
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MITF tumor syndrome
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A medical illustration showing key findings of MITF tumor syndrome
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