Journal
BRITISH JOURNAL OF CANCER
Volume 118, Issue 9, Pages 1243-1247Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41416-018-0046-5
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Funding
- Dr. Werner-Jackstadt-Stiftung
- Hiege-Stiftung gegen Hautkrebs
- NIH/NCI Cancer Center Support Grant [P30 CA008748]
- European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant [641458]
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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 genetically into four groups: BRAF-mutated, RAS-mutated, NF1-mutated and triple wild-type melanomas. This genetic classification may be useful for assessment of therapeutic options for patients with metastatic conjunctival melanoma
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