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Detection of the BRAF V600E mutation in Lentigo Maligna Melanoma lesions

Abstract
Malignant melanoma (MM) is considered the most aggressive form of skin cancers with a high
mortality and often ineffective treatment, especially for metastasis. Prerequisites for the application
of new and promising therapies are the precise diagnosis and the knowledge of the mutational status
of the tumor.
Diagnosis of Lentigo maligna melanoma (LMM), a special form of MM, is complicated since
pigmented actinic keratosis (in situ squamous cell carcinoma) and solar lentigo (‘senile freckle’) can
resemble LMM clinically and histopathologically. Only few data is available concerning the genetic
character of both LMM and solar lentigo (especially regarding BRAF).
The BRAF V600E mutation is the most frequent oncogenic event detected in MM. The study at hand
will analyze the BRAF V600E mutational status in a well characterized collective of FFPE LMM tissue
samples. For this purpose we will optimize and validate three different PCR based methods for
mutational analysis. The incidence of the BRAF V600E mutation will be determined in a large LMM
collective and the diagnostic and clinical relevance of mutated BRAF will be evaluated by comparison
with that in pigmented actinic keratosis and solar lentigo. The results of this study should help to
improve the diagnostics means and contribute to advance therapy options of MM.
Local Subprojectlead:
Dandachi Nadia
Duration:
01.01.2011-30.06.2012
Programme:
Jubiläumsfonds (ÖNB)
Type of Research
applied research
Staff
Dandachi, Nadia, Project Leader
Wolf, Peter, Sub Projectleader
Resel, Margit, Co-worker
Stadelmeyer, Elke, Co-worker
MUG Research Units
Department of Dermatology and Venereology
Division of Oncology
Funded by
Österreichische Nationalbank (Jubiläumsfonds), Otto Wagner Platz 3, A-1090 Wien, Austria
Project results published
> The BRAF V600K mutation is more frequent than the ... J Invest Dermatol. 2014; 134(2):548-550
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