Melanoma, cutaneous malignant, susceptibility to, 8
Melanoma, cutaneous malignant, susceptibility to, 8
Definition
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.
Also known as melanoma, cutaneous malignant, susceptibility to, 8, melanoma, cutaneous malignant, susceptibility to, type 8, MITF-related melanoma and renal cell carcinoma predisposition syndrome — per MONDO