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.
MITF tumor syndrome
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Synopsis

Codes
ICD10CM:
Z15.09 – Genetic susceptibility to other malignant neoplasm
SNOMEDCT:
770896003 – MITF-related melanoma and renal cell carcinoma predisposition syndrome
Z15.09 – Genetic susceptibility to other malignant neoplasm
SNOMEDCT:
770896003 – MITF-related melanoma and renal cell carcinoma predisposition syndrome
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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
- Von Hippel-Lindau syndrome
- Birt-Hogg-Dube syndrome
- Cowden syndrome
- Hereditary leiomyomatosis and renal cell carcinoma
- Hereditary papillary renal carcinoma (HPRC)
- Succinate dehydrogenase-deficient renal cancer (SDH-RCC)
- BAP1 tumor predisposition syndrome
- Tuberous sclerosis
- Hereditary hyperparathyroidism-jaw tumor syndrome
- Chromosome 3 translocation
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Last Reviewed:08/30/2021
Last Updated:01/19/2022
Last Updated:01/19/2022