Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

Luis Jaime Castro-Vega, Eric Letouzé, Nelly Burnichon, Alexandre Buffet, Pierre-Hélie Disderot, Emmanuel Khalifa, Céline Loriot, Nabila Elarouci, Aurélie Morin, Mélanie Menara, Charlotte Lepoutre-Lussey, Cécile Badoual, Mathilde Sibony, Bertrand Dousset, Rossella Libé, Franck Zinzindohoue, Pierre François Plouin, Jérôme Bertherat, Laurence Amar, Aurélien de Reyniès, Judith Favier and Anne-Paule Gimenez-Roqueplo ()
Additional contact information
Luis Jaime Castro-Vega: INSERM, UMR970, Paris-Cardiovascular Research Center
Eric Letouzé: Programme Cartes d’Identité des Tumeurs, Ligue Nationale Contre Le Cancer
Nelly Burnichon: INSERM, UMR970, Paris-Cardiovascular Research Center
Alexandre Buffet: INSERM, UMR970, Paris-Cardiovascular Research Center
Pierre-Hélie Disderot: INSERM, UMR970, Paris-Cardiovascular Research Center
Emmanuel Khalifa: INSERM, UMR970, Paris-Cardiovascular Research Center
Céline Loriot: INSERM, UMR970, Paris-Cardiovascular Research Center
Nabila Elarouci: Programme Cartes d’Identité des Tumeurs, Ligue Nationale Contre Le Cancer
Aurélie Morin: INSERM, UMR970, Paris-Cardiovascular Research Center
Mélanie Menara: INSERM, UMR970, Paris-Cardiovascular Research Center
Charlotte Lepoutre-Lussey: INSERM, UMR970, Paris-Cardiovascular Research Center
Cécile Badoual: INSERM, UMR970, Paris-Cardiovascular Research Center
Mathilde Sibony: Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine
Bertrand Dousset: Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine
Rossella Libé: Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine
Franck Zinzindohoue: Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine
Pierre François Plouin: INSERM, UMR970, Paris-Cardiovascular Research Center
Jérôme Bertherat: Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine
Laurence Amar: INSERM, UMR970, Paris-Cardiovascular Research Center
Aurélien de Reyniès: Programme Cartes d’Identité des Tumeurs, Ligue Nationale Contre Le Cancer
Judith Favier: INSERM, UMR970, Paris-Cardiovascular Research Center
Anne-Paule Gimenez-Roqueplo: INSERM, UMR970, Paris-Cardiovascular Research Center

Nature Communications, 2015, vol. 6, issue 1, 1-9

Abstract: Abstract Pheochromocytomas and paragangliomas (PCCs/PGLs) are neural crest-derived tumours with a very strong genetic component. Here we report the first integrated genomic examination of a large collection of PCC/PGL. SNP array analysis reveals distinct copy-number patterns associated with genetic background. Whole-exome sequencing shows a low mutation rate of 0.3 mutations per megabase, with few recurrent somatic mutations in genes not previously associated with PCC/PGL. DNA methylation arrays and miRNA sequencing identify DNA methylation changes and miRNA expression clusters strongly associated with messenger RNA expression profiling. Overexpression of the miRNA cluster 182/96/183 is specific in SDHB-mutated tumours and induces malignant traits, whereas silencing of the imprinted DLK1-MEG3 miRNA cluster appears as a potential driver in a subgroup of sporadic tumours. Altogether, the complete genomic landscape of PCC/PGL is mainly driven by distinct germline and/or somatic mutations in susceptibility genes and reveals different molecular entities, characterized by a set of unique genomic alterations.

Date: 2015
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DOI: 10.1038/ncomms7044

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