Letter to the Editor - The BRAF V600E Mutation is Not Present in All Cells of the Primary Melanoma and May Not Be Detected in All Metastatic Sites

Schneider, Lars Alexander; Barth, Thomas F.E.; Huber, Margit Anna; Menzel, Thomas; Scharffetter-Kochanek, Karin; Thal, Dietmar; Moller, Peter; Marienfeld, Ralf

Letter to the Editor - The BRAF V600E Mutation is Not Present in All Cells of the Primary Melanoma and May Not Be Detected in All Metastatic Sites

Lars Alexander Schneider^{1, §}, Thomas F.E. Barth^{*, 2, §}, Margit Anna Huber¹, Thomas Menzel³, Karin Scharffetter-Kochanek¹, Dietmar Thal², Peter Moller², Ralf Marienfeld²

¹ Skin Cancer Center Ulm, University Department of Dermatology and Allergology Ulm, Germany

² Department of Pathology and Neuropathology, University of Ulm, Germany

³ Dermatopathologie Friedrichshafen, D-88048 Friedrichshafen Bodensee, Germany

Article Information

Identifiers and Pagination:

Year: 2013
Volume: 7
First Page: 8
Last Page: 10
Publisher ID: TODJ-7-8
DOI: 10.2174/1874372201307010008

Article History:

Received Date: 20/07/2012
Revision Received Date: 6/11/2012
Acceptance Date: 7/11/2012
Electronic publication date: 22/2/2013
Collection year: 2013

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© 2013 Schneider et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

^* Address correspondence to this author at the Institute of Pathology, Ulm University, Ulm, Albert-Einstein- Allee 11, D89081 Ulm, University of Ulm, D-89081 Ulm, Germany; Tel: 0049 731500-56340; Fax: 0049 731500- 56380; E-mail: thomas.barth@uniklinik-ulm.de
^# These authors contributed equally.

The invention of targeted therapy for advanced stage melanoma has made it necessary to perform a mutation analysis of each melanoma case in order to detect the BRAF V600E mutation required for the prescription of selective BRAF inhibitors. In this new clinical context it is important to realize that the tumour seeds may come from different tumour clones and thus not all carry the mutation. We present an illustrative case that shows this phenomenon and discuss the consequences for clinical management in case of possible false negative mutation testing.

Keywords: Melanoma, BRAF V600E, mutation analysis, PCR, polyclonality.

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Letter to the Editor - The BRAF V600E Mutation is Not Present in All Cells of the Primary Melanoma and May Not Be Detected in All Metastatic Sites

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