Related Experiment Video
Updated: Feb 13, 2026

Conjunctival Commensal Isolation and Identification in Mice
Published on: May 1, 2021
NF1 mutations in conjunctival melanoma
S L Scholz1, I Cosgarea2, D Süßkind3
1Department of Ophthalmology, University Hospital Essen, Hufelandstrasse 55, Essen, 45147, Germany. simone.scholz@uk-essen.de.
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.
Insights
Conjunctival melanoma genetics reveal frequent mutations in NF1, BRAF, and RAS genes, similar to skin melanomas. This genetic profiling aids in understanding therapeutic options for metastatic eye tumors.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Conjunctival melanoma is a dangerous eye tumor with frequent recurrence and metastasis despite treatment.
- The underlying genetic factors of conjunctival melanoma are not well understood.
Purpose of the Study:
- To investigate the genetic landscape of conjunctival melanoma.
- To correlate genetic mutations with patient prognosis.
Main Methods:
- Targeted next-generation sequencing was used to screen 63 conjunctival melanoma samples.
- Analysis focused on mutations common in other melanoma subtypes.
Main Results:
- Frequent mutations were found in genes activating the MAP kinase pathway.
- NF1 mutations occurred in 33% of cases, BRAF in 25%, and RAS genes in 19%.
Conclusions:
- Conjunctival melanomas can be genetically classified into four groups: BRAF-mutated, RAS-mutated, NF1-mutated, and triple wild-type.
- This genetic classification may inform therapeutic strategies for metastatic conjunctival melanoma.
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Mutation, Gene Flow, and Genetic Drift
Mutations in Microorganisms
Point and Frameshift Mutations

