High concordance of BRAF mutational status in matched primary and metastatic melanoma

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dc.contributor.author Cormican, David
dc.contributor.author Kennedy, Ciaran
dc.contributor.author Murphy, Sandra
dc.contributor.author Werner, Reiltin
dc.contributor.author Power, Derek G.
dc.contributor.author Heffron, Cynthia C. B. B.
dc.date.accessioned 2018-12-13T12:35:11Z
dc.date.available 2018-12-13T12:35:11Z
dc.date.issued 2018-11-14
dc.identifier.citation Cormican, D., Kennedy, C., Murphy, S., Werner, R., Power, D. G. and Heffron, C. C. (2018) 'High Concordance of BRAF Mutational Status in Matched Primary and Metastatic Melanoma', Journal of Cutaneous Pathology, In Press, doi: 10.1111/cup.13393 en
dc.identifier.startpage 1 en
dc.identifier.endpage 4 en
dc.identifier.issn 0303-6987
dc.identifier.issn 1600-0560
dc.identifier.uri http://hdl.handle.net/10468/7217
dc.identifier.doi 10.1111/cup.13393
dc.description.abstract Background: Techniques for the accurate identification of activating mutations of BRAF in metastatic melanoma are of great clinical importance, due to the availability of targeted therapies for these tumours. There is uncertainty regarding the frequency with which BRAF status differs between primary and metastatic sites. Methods: Between 2011 and 2016, 219 melanoma cases underwent BRAF testing in our institution. In 53 of these, paired primary and metastatic specimens were available for PCR and immunohistochemical evaluation. Results: 52 out of 53 cases (98%) showed concordant BRAF status between primary and metastatic site by IHC. In one case, a metastasis and its matched primary were positive by IHC but the metastasis was negative on PCR. On further investigation, PCR was positive in the primary and repeat PCR in the metastasis was positive, following macrodissection. Conclusions: Our results suggest that discordance of BRAF mutational status between primaries and metastases is a rare occurrence. In one case, immunohistochemistry provided strong evidence that initial PCR testing had provided a false negative result due to low tumour volume. Thus, in cases where tissue is difficult to obtain from a metastasis or unavailable, the primary tumour can be used with confidence. en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher Wiley en
dc.relation.uri https://onlinelibrary.wiley.com/doi/abs/10.1111/cup.13393
dc.rights © 2018 John Wiley & Sons, Inc. All rights reserved. This is the peer reviewed version of the following article: Cormican, D. , Kennedy, C. , Murphy, S. , Werner, R. , Power, D. G. and Heffron, C. C. (2018), High Concordance of BRAF Mutational Status in Matched Primary and Metastatic Melanoma. J Cutan Pathol. Accepted Author Manuscript, which has been published in final form at https://doi.org/10.1111/cup.13393. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. en
dc.subject Melanoma en
dc.subject BRAF en
dc.subject Immunohistochemistry en
dc.subject Metastasis en
dc.title High concordance of BRAF mutational status in matched primary and metastatic melanoma en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother Cynthia Heffron, Pathology, School of Medicine, University College Cork, Cork, Ireland. +353-21-490-3000 Email: cynthia.heffron@ucc.ie en
dc.internal.availability Full text available en
dc.check.info Access to this article is restricted until 12 months after publication by request of the publisher. en
dc.check.date 2019-11-14
dc.description.version Accepted Version en
dc.description.status Peer reviewed en
dc.identifier.journaltitle Journal of Cutaneous Pathology en
dc.internal.copyrightchecked !!CORA!! en
dc.internal.IRISemailaddress cynthia.heffron@ucc.ie en


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