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Journal of Skin Cancer
Volume 2013 (2013), Article ID 469671, 4 pages
Research Article

Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens

1Serviço de Dermatologia, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-375 Coimbra, Portugal
2Unidade de Serviços Avançados, Biocant, Parque Tecnológico de Cantanhede, Núcleo 04, Lote 3, 3060-197 Cantanhede, Portugal

Received 13 July 2013; Revised 6 September 2013; Accepted 8 September 2013

Academic Editor: Iris Zalaudek

Copyright © 2013 Ricardo Vieira et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


DLEC1 has been suggested as a tumor suppressor gene in several cancers. DLEC1 D215N somatic mutation (COSM36702) was identified in a melanoma cell line through whole genome sequencing. However, little is known about the implication and prevalence of this mutation in primary melanomas or in melanocytic nevi. The aim of this study was to genotype DLEC1 D215N mutation in melanoma tissue and melanocytic nevi samples to confirm its occurrence and to estimate its prevalence. Primary melanomas ( ) paired with synchronous or asynchronous metastases ( ) from 81 melanoma patients and melanocytic nevi ( ) were screened for DLEC1 D215N mutation. We found the mutation in 3 primary melanomas and in 2 melanocytic nevi, corresponding to a relatively low prevalence (3.7% and 7.1%, resp.). The pathogenic role of DLEC1 215N mutation is unclear. However, since the mutation has not been previously described in general population, its involvement in nevogenesis and melanoma progression remains a possibility to be clarified in future studies.