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BRAF codon 600 mutations in patients diagnosed with melanoma in the UK; An audit to assess variation in mutation frequency & methods between clinical testing centres
Charakidis, M. Backen, Alison C Wallace, A. J. Wang, Xin
Charakidis, M.
Backen, Alison C
Wallace, A. J.
Wang, Xin
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Abstract
Background: The published frequency of the BRAF p.V600 mutations in patients with
melanoma is approximately 40% and is dependent on age and melanoma subtype.
BRAF status is a key predictive factor for response to targeted therapy and immunotherapy
and there is increasing evidence that it is also prognostic. Mutation testing
is a standard of care for patients with resected Stage 3 and for Stage 4 disease, to
inform treatment choice. There are currently a variety of validated and approved
methods for BRAF testing. The primary aim of this study was to identify all clinical
laboratories in the UK performing BRAF testing for melanoma and examine the assays
used, positivity rates and turnaround time.
Methods: This was a retrospective audit of laboratories performing BRAF gene
mutational analysis in melanoma samples in the UK. 14 out of the 18 identified
laboratories participated. Methodologies used and anonymised results for samples
tested Jan-Dec 2019 were collected.
Results: 4050 results were analysed. The median BRAF positivity rate amongst all
laboratories was 34% (range 23-41%). The median turnaround time for reporting
results was 7 calendar days. 6 laboratories used only one method of testing and 8
laboratories used more than one. The types of tests used varied between the testing
centres. All laboratories are able to detect clinically important BRAF p.V600E and
p.V600K mutations. Men (p¼ 0.0354) and younger patients (p <0.001) had higher
rates of BRAF mutation. the range of median age per laboratory was 65-72.
Conclusions: The median reported BRAF positivity rates in the UK is lower than
published and there is a wide range. The reasons for the difference in the positivity
rates are likely multiple but could potentially have an impact on treatment options
offered to patients. Further research is required to identify the reasons for these
differences. This will include collaboration with the UK National External Quality
Assessment Scheme to optimise the methodologies used across centres, aiming for
more consistent results across the board.
Description
Date
2020
Publisher
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Keywords
Type
Meetings and Proceedings
Citation
Charakidis M, Backen A, Wallace AJ, Blackhall FH, Wang X, Lorigan P. 1134P BRAF codon 600 mutations in patients diagnosed with melanoma in the UK; An audit to assess variation in mutation frequency & methods between clinical testing centres. Annals of Oncology. 2020;31:S760-S.