Frequent MAGE mutations in human melanoma
(2010) PLoS One — Vol. 5, n° 9, p. e12773 (2010)
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- Abstract
- BACKGROUND: Cancer/testis (CT) genes are expressed only in the germ line and certain tumors and are most frequently located on the X-chromosome (the CT-X genes). Amongst the best studied CT-X genes are those encoding several MAGE protein families. The function of MAGE proteins is not well understood, but several have been shown to potentially influence the tumorigenic phenotype. METHODOLOGY/PRINCIPAL FINDINGS: We undertook a mutational analysis of coding regions of four CT-X MAGE genes, MAGEA1, MAGEA4, MAGEC1, MAGEC2 and the ubiquitously expressed MAGEE1 in human melanoma samples. We first examined cell lines established from tumors and matching blood samples from 27 melanoma patients. We found that melanoma cell lines from 37% of patients contained at least one mutated MAGE gene. The frequency of mutations in the coding regions of individual MAGE genes varied from 3.7% for MAGEA1 and MAGEA4 to 14.8% for MAGEC2. We also examined 111 fresh melanoma samples collected from 86 patients. In this case, samples from 32% of the patients exhibited mutations in one or more MAGE genes with the frequency of mutations in individual MAGE genes ranging from 6% in MAGEA1 to 16% in MAGEC1. SIGNIFICANCE: These results demonstrate for the first time that the MAGE gene family is frequently mutated in melanoma.
- Affiliations
LICR NY Memorial Sloan-Kettering Cancer Center J. Craig Venter Institute, Rockville, Maryland, USA J. Craig Venter Institute, Rockville, Maryland, USA LICR Lausanne LICR Lausanne LICR Melbourne Melbourne Centre for Clinical Sciences, Austin Health, Heidelberg, Victoria, Australie LICR Ltd, Oxford Branch, Headington, Oxford, UK Nuffield Department of Clinical Medicine, University of Oxford LICR NY & Ludwig Center for Cancer Immunotherapy, New York, USA Memorial Sloan-Kettering Cancer Center & Department of Medicine Memorial Sloan-Kettering Cancer Center, New York, USA Department of Medicine and Ludwig Center for Cancer Immunotherapy Oregon Health & Science University, Portland, Oregon, USA Division of Gynecologic Oncology and the Knight Cancer Institute Roswell Park Cancer Institute, Buffalo, New York, USA Department of Gynecological Oncology and Center for Immunotherapy LICR NY LICR NY
Citations
Caballero, O. L., Zhao, Q., Rimoldi, D., Stevenson, B. J., Svobodova, S., Devalle, S., Röhrig, U. F., Pagotto, A., Michielin, O., Speiser, D., Wolchok, J. D., Liu, C., Pejovic, T., Odunsi, K., Brasseur, F., Van den Eynde, B., Old, L. J., Lu, X., Cebon, J., et al. (2010). Frequent MAGE mutations in human melanoma. PLoS One, 5(9), e12773. https://doi.org/10.1371/journal.pone.0012773 (Original work published 2010)