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BRAF mutations are detectable in conjunctival but not uveal melanomas
Hayley E Spendlove1, Bertil E Damato, Jane Humphreys
1Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK.
Melanoma Research
|December 4, 2004
Summary
Activating BRAF mutations are common in skin melanomas. This study found BRAF mutations in some conjunctival melanomas but none in uveal melanomas, suggesting different origins for these eye cancers.
Area of Science:
- Oncology
- Genetics
- Ophthalmology
Background:
- Activating BRAF mutations, particularly in exon 15, are frequently observed in cutaneous melanomas.
- The role of BRAF mutations in other melanoma subtypes, such as conjunctival and uveal melanomas, remains largely unexplored.
Purpose of the Study:
- To investigate the presence and significance of BRAF mutations in conjunctival and uveal melanomas.
- To determine if BRAF mutations are a common oncogenic driver in these ocular melanoma types.
Main Methods:
- Screening of DNA from 21 conjunctival and 88 uveal melanoma tumors.
- Mutation analysis of BRAF exons 11 and 15 using conformationally sensitive gel electrophoresis and direct sequencing.
Main Results:
- Activating BRAF mutations in exon 15 were identified in three conjunctival tumors (two V599E, one E585K).
- No BRAF mutations were detected in either exon 11 or 15 in any of the 88 uveal melanoma samples.
Conclusions:
- Uveal melanomas appear to develop independently of BRAF oncogenic mutations.
- A subset of conjunctival melanomas may arise due to BRAF gene mutations, similar to cutaneous melanomas.