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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