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Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/341690
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- Title
- Concordant BRAFV600E mutation status in primary melanomas and associated naevi : Implications for mutation testing of primary melanomas
- Related
- Pathology, Vol. 46, No. 3, (2014), p.193-198
- Funding Body
- NHMRC
- Grant URL
- http://purl.org/au-research/grants/nhmrc/633004
- Grant URL
- http://purl.org/au-research/grants/nhmrc/APP1066735
- DOI
- 10.1097/PAT.0000000000000077
- Publisher
- Lippincott Williams and Wilkins
- Date
- 2014
- Author/Creator
- Kakavand, Hojabr
- Author/Creator
- Crainic, Oana
- Author/Creator
- Lum, Trina
- Author/Creator
- O'Toole, Sandra A
- Author/Creator
- Kefford, Richard F
- Author/Creator
- Thompson, John F
- Author/Creator
- Wilmott, James S
- Author/Creator
- Long, Georgina V
- Author/Creator
- Scolyer, Richard A
- Description
- There is concern that BRAF mutant naevus cells admixed with melanoma cells could cause false positive mutation tests in BRAF wild-type melanomas. We sought to assess the frequency of BRAFV600E mutations in primary melanomas arising with/without associated naevi and determine BRAFV600E concordance between melanomas and associated naevi. Formalin fixed, paraffin embedded (FFPE) tissue from 57 patients with primary melanomas with/without associated naevi was immunohistochemically stained to detect BRAF V600E mutation. In a subset of patients (n=29), molecular mutation testing was also carried out using a panel of 238 known genetic variants. Of the primary melanomas with an associated naevus (n=29), 55% were BRAF V600E mutant with 100% concordance between the melanoma and associated naevus. In contrast, only 21% of the primary melanomas unassociated with naevi were BRAFV600E mutant (p=0.009). Our results suggest that melanomas with associated naevi have a higher frequency of BRAFV600E mutations than melanomas unassociated with naevi. Furthermore, melanomas and their associated naevi were concordant in BRAFV600E status, which suggests that false positive mutation tests occurring as a consequence of admixed BRAF mutant naevus cells in BRAF wild-type primary melanomas are unlikely to be a problem in clinical practice. The findings have important implications for adjuvant clinical trials of targeted therapies.
- Description
- 6 page(s)
- Subject Keyword
- BRAF
- Subject Keyword
- Diagnosis
- Subject Keyword
- Immunohistochemistry
- Subject Keyword
- Melanoma
- Subject Keyword
- Mutation testing
- Subject Keyword
- Naevus
- Subject Keyword
- Pathology
- Subject Keyword
- Targeted therapy
- Subject Keyword
- Treatment
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/341690
- Identifier
- mq:37953
- Identifier
- ISSN:1465-3931
- Identifier
- mq-rm-2013010888
- Identifier
- mq_res-ext-2-s2.0-84902127746
- Language
- eng
- Reviewed
Macquarie University ResearchOnline
