Синдром схильності до меланоми та нирковоклітинної карциноми, повязаний з MITF
ORPHA:293822· ICD-10 C43.9· MITF-related melanoma and renal cell carcinoma predisposition syndrome
Визначення(English summary)
MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Adult, Elderly