BRAF Mutation in Uveal Melanoma
Author Information
Author(s): Janssen C S, Sibbett R, Henriquez F L, McKay I C, Kemp E G, Roberts F
Primary Institution: University of Glasgow
Hypothesis
The BRAF mutation may be present in uveal melanoma but only in some of the tumour cells.
Conclusion
The T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous.
Supporting Evidence
- The T1799A mutation was identified in 4 of 20 (20%) ciliary body melanomas and 11 of 30 (40%) choroidal melanomas.
- Further analysis showed that the mutation was not present in the entire tumour, indicating heterogeneity.
- Previous studies had reported the absence of the BRAF mutation in posterior uveal melanoma.
Takeaway
Some eye cancers have a change in a gene called BRAF, but not all parts of the tumor have this change, which makes it tricky to find.
Methodology
The study used a nested PCR-based technique to analyze 20 ciliary body and 30 choroidal melanomas for the presence of the BRAF mutation.
Limitations
The study could not analyze ciliary body melanoma due to a smaller number of cases and absence of survival data.
Participant Demographics
The average age of participants with ciliary body melanoma was 33.5 years, and with choroidal melanoma was 51 years, with a mix of male and female patients.
Digital Object Identifier (DOI)
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