Gene | Characteristic association |
CDKN2A | Familial melanoma |
BRAF | Most common mutations in sporadic melanoma |
PTEN | Common |
NRAS | Enriched in nodular melanoma |
HRAS | Present in some Spitz nevi, distinguishing them from spitzoid melanoma |
ALK | ALK fusions in subset of Spitz neoplasms |
KIT | Predilection for lentigo maligna melanoma, acral lentiginous melanoma, mucosal melanomas |
GNAQ, GNA11 | Uveal melanoma, blue nevi |
BAP1 | Associated with epithelioid Spitz tumors, uveal melanoma, mesothelioma, renal cell carcinoma |
TERT | Encodes for telomerase; can be associated with high-risk spitzoid melanoma |
NTRK | Gene fusions frequently associated with infantile fibrosarcoma and secretory type of breast cancer; TRK inhibitors available |
NF1 | Occurs with mutations in the RASopathy genes |
IDH1 | 3 to 5% of melanomas |
RAC1 | Common |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟