NF1 mutations in conjunctival melanoma.

ABSTRACT: BACKGROUND:Conjunctival melanoma is a potentially deadly eye tumour. Despite effective local therapies, tumour recurrence and metastasis remain frequent. The genetics of conjunctival melanomas remain incompletely understood. METHODS:A large cohort of 63 conjunctival melanomas was screened for gene mutations known to be important in other melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with patient prognosis. RESULTS:Frequent mutations in genes activating the MAP kinase pathway were identified. NF1 mutations were most frequent (n = 21, 33%). Recurrent activating mutations were also identified in BRAF (n = 16, 25%) and RAS genes (n = 12, 19%; 11 NRAS and 1 KRAS). CONCLUSIONS:Similar to cutaneous melanomas, conjunctival melanomas can be grouped genetic

SUBMITTER: Scholz SL 

PROVIDER: S-EPMC5943412 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature