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

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dc.check.date2019-11-14
dc.check.infoAccess to this article is restricted until 12 months after publication by request of the publisher.en
dc.contributor.authorCormican, David
dc.contributor.authorKennedy, Ciaran
dc.contributor.authorMurphy, Sandra
dc.contributor.authorWerner, Reiltin
dc.contributor.authorPower, Derek G.
dc.contributor.authorHeffron, Cynthia C. B. B.
dc.date.accessioned2018-12-13T12:35:11Z
dc.date.available2018-12-13T12:35:11Z
dc.date.issued2018-11-14
dc.description.abstractBackground: 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.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationCormican, 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.13393en
dc.identifier.doi10.1111/cup.13393
dc.identifier.endpage4en
dc.identifier.issn0303-6987
dc.identifier.issn1600-0560
dc.identifier.journaltitleJournal of Cutaneous Pathologyen
dc.identifier.startpage1en
dc.identifier.urihttps://hdl.handle.net/10468/7217
dc.language.isoenen
dc.publisherWileyen
dc.relation.urihttps://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.subjectMelanomaen
dc.subjectBRAFen
dc.subjectImmunohistochemistryen
dc.subjectMetastasisen
dc.titleHigh concordance of BRAF mutational status in matched primary and metastatic melanomaen
dc.typeArticle (peer-reviewed)en
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