TY  - JOUR
A1  - Scholz, S. L.
A1  - Cosgarea, I.
A1  - Süßkind, D.
A1  - Murali, R.
A1  - Möller, I.
A1  - Reis, H.
A1  - Leonardelli, S.
A1  - Schilling, B.
A1  - Schimming, T.
A1  - Hadaschik, E.
A1  - Franklin, C.
A1  - Paschen, A.
A1  - Sucker, A.
A1  - Steuhl, K. P.
A1  - Schadendorf, D.
A1  - Westekemper, H.
A1  - Griewank, K. G.
T1  - NF1 mutations in conjunctival melanoma
T2  - British Journal of Cancer
N2  - 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
KW  - cancer genetics
KW  - eye cancer
Y1  - 2018
UR  - https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/23332
UR  - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-233329
VL  - 118
ER  -