Chordoma characterization of significant changes of the DNA methylation pattern.

Chordomas are rare mesenchymal tumors occurring exclusively in the midline from clivus to sacrum. Early tumor detection is extremely important as these tumors are resistant to chemotherapy and irradiation. Despite continuous research efforts surgical excision remains the main treatment option. Becau...

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Autores principales:	Beate Rinner, Andreas Weinhaeusel, Birgit Lohberger, Elke Verena Froehlich, Walter Pulverer, Carina Fischer, Katharina Meditz, Susanne Scheipl, Slave Trajanoski, Christian Guelly, Andreas Leithner, Bernadette Liegl
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/4d8e2f65ad5a44068e710c9adfd562d1
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spelling	oai:doaj.org-article:4d8e2f65ad5a44068e710c9adfd562d12021-11-18T07:52:23ZChordoma characterization of significant changes of the DNA methylation pattern.1932-620310.1371/journal.pone.0056609https://doaj.org/article/4d8e2f65ad5a44068e710c9adfd562d12013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23533570/?tool=EBIhttps://doaj.org/toc/1932-6203Chordomas are rare mesenchymal tumors occurring exclusively in the midline from clivus to sacrum. Early tumor detection is extremely important as these tumors are resistant to chemotherapy and irradiation. Despite continuous research efforts surgical excision remains the main treatment option. Because of the often challenging anatomic location early detection is important to enable complete tumor resection and to reduce the high incidence of local recurrences. The aim of this study was to explore whether DNA methylation, a well known epigenetic marker, may play a role in chordoma development and if hypermethylation of specific CpG islands may serve as potential biomarkers correlated with SNP analyses in chordoma. The study was performed on tumor samples from ten chordoma patients. We found significant genomic instability by Affymetrix 6.0. It was interesting to see that all chordomas showed a loss of 3q26.32 (PIK 3CA) and 3q27.3 (BCL6) thus underlining the potential importance of the PI3K pathway in chordoma development. By using the AITCpG360 methylation assay we elucidated 20 genes which were hyper/hypomethylated compared to normal blood. The most promising candidates were nine hyper/hypomethylated genes C3, XIST, TACSTD2, FMR1, HIC1, RARB, DLEC1, KL, and RASSF1. In summary, we have shown that chordomas are characterized by a significant genomic instability and furthermore we demonstrated a characteristic DNA methylation pattern. These findings add new insights into chordoma development, diagnosis and potential new treatment options.Beate RinnerAndreas WeinhaeuselBirgit LohbergerElke Verena FroehlichWalter PulvererCarina FischerKatharina MeditzSusanne ScheiplSlave TrajanoskiChristian GuellyAndreas LeithnerBernadette LieglPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 3, p e56609 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Beate Rinner Andreas Weinhaeusel Birgit Lohberger Elke Verena Froehlich Walter Pulverer Carina Fischer Katharina Meditz Susanne Scheipl Slave Trajanoski Christian Guelly Andreas Leithner Bernadette Liegl Chordoma characterization of significant changes of the DNA methylation pattern.
description	Chordomas are rare mesenchymal tumors occurring exclusively in the midline from clivus to sacrum. Early tumor detection is extremely important as these tumors are resistant to chemotherapy and irradiation. Despite continuous research efforts surgical excision remains the main treatment option. Because of the often challenging anatomic location early detection is important to enable complete tumor resection and to reduce the high incidence of local recurrences. The aim of this study was to explore whether DNA methylation, a well known epigenetic marker, may play a role in chordoma development and if hypermethylation of specific CpG islands may serve as potential biomarkers correlated with SNP analyses in chordoma. The study was performed on tumor samples from ten chordoma patients. We found significant genomic instability by Affymetrix 6.0. It was interesting to see that all chordomas showed a loss of 3q26.32 (PIK 3CA) and 3q27.3 (BCL6) thus underlining the potential importance of the PI3K pathway in chordoma development. By using the AITCpG360 methylation assay we elucidated 20 genes which were hyper/hypomethylated compared to normal blood. The most promising candidates were nine hyper/hypomethylated genes C3, XIST, TACSTD2, FMR1, HIC1, RARB, DLEC1, KL, and RASSF1. In summary, we have shown that chordomas are characterized by a significant genomic instability and furthermore we demonstrated a characteristic DNA methylation pattern. These findings add new insights into chordoma development, diagnosis and potential new treatment options.
format	article
author	Beate Rinner Andreas Weinhaeusel Birgit Lohberger Elke Verena Froehlich Walter Pulverer Carina Fischer Katharina Meditz Susanne Scheipl Slave Trajanoski Christian Guelly Andreas Leithner Bernadette Liegl
author_facet	Beate Rinner Andreas Weinhaeusel Birgit Lohberger Elke Verena Froehlich Walter Pulverer Carina Fischer Katharina Meditz Susanne Scheipl Slave Trajanoski Christian Guelly Andreas Leithner Bernadette Liegl
author_sort	Beate Rinner
title	Chordoma characterization of significant changes of the DNA methylation pattern.
title_short	Chordoma characterization of significant changes of the DNA methylation pattern.
title_full	Chordoma characterization of significant changes of the DNA methylation pattern.
title_fullStr	Chordoma characterization of significant changes of the DNA methylation pattern.
title_full_unstemmed	Chordoma characterization of significant changes of the DNA methylation pattern.
title_sort	chordoma characterization of significant changes of the dna methylation pattern.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/4d8e2f65ad5a44068e710c9adfd562d1
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Chordoma characterization of significant changes of the DNA methylation pattern.

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