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Multi-omics analysis defines core genomic alterationsin pheochromocytomas and paragangliomas

Pheochromocytomas and paragangliomas (PCC/PGL) are neural crest derived tumors with a very strong genetic component. We report the first integrated genomic portrayal of a large collection of PCC/PGL. SNP array analysis revealed distinct copy-number patterns associated with genetic background. Whole-exome sequencing showed 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 identified DNA methylation changes and miRNA expression clusters strongly associated with mRNA expression profiling. Overexpression of the miRNA cluster 182/96/183 was specific of SDHB-mutated tumors and induced invasive traits, whereas silencing of the imprinted DLK1-MEG3 miRNA cluster appeared as a potential driver in a subgroup of sporadic tumors. 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.

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Exome data uploaded on he EGA website are private for the "Service de Génétique" de Hôpital Européen Georges Pompidou.for any access request, please contact the head of the DAC.

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000933 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000602877 bam 9.3 GB
EGAF00000602878 bam 10.2 GB
EGAF00000602879 bam 6.4 GB
EGAF00000602880 bam 8.1 GB
EGAF00000602881 bam 11.5 GB
EGAF00000602882 bam 9.3 GB
EGAF00000602883 bam 9.6 GB
EGAF00000602884 bam 10.0 GB
EGAF00000602885 bam 12.8 GB
EGAF00000602886 bam 13.0 GB
EGAF00000602887 bam 14.6 GB
EGAF00000602888 bam 10.1 GB
EGAF00000602889 bam 12.9 GB
EGAF00000602890 bam 9.6 GB
EGAF00000602891 bam 11.1 GB
EGAF00000602892 bam 10.1 GB
EGAF00000602893 bam 8.5 GB
EGAF00000602894 bam 10.3 GB
EGAF00000602895 bam 8.7 GB
EGAF00000602896 bam 8.1 GB
EGAF00000602897 bam 9.8 GB
EGAF00000602898 bam 10.3 GB
EGAF00000602899 bam 10.0 GB
EGAF00000602900 bam 11.3 GB
EGAF00000602901 bam 9.0 GB
EGAF00000602902 bam 9.4 GB
EGAF00000602903 bam 11.4 GB
EGAF00000602904 bam 10.3 GB
EGAF00000602905 bam 9.4 GB
EGAF00000602906 bam 10.3 GB
EGAF00000602907 bam 8.4 GB
EGAF00000602908 bam 7.3 GB
EGAF00000602909 bam 10.4 GB
EGAF00000602910 bam 10.6 GB
EGAF00000602911 bam 8.1 GB
EGAF00000602912 bam 7.5 GB
EGAF00000602913 bam 7.6 GB
EGAF00000602914 bam 6.4 GB
EGAF00000602915 bam 10.3 GB
EGAF00000602916 bam 10.5 GB
EGAF00000602917 bam 9.5 GB
EGAF00000602918 bam 11.4 GB
EGAF00000602919 bam 11.8 GB
EGAF00000602920 bam 8.7 GB
EGAF00000602921 bam 9.8 GB
EGAF00000602922 bam 8.7 GB
EGAF00000602923 bam 6.0 GB
EGAF00000602924 bam 5.4 GB
EGAF00000602925 bam 9.7 GB
EGAF00000602926 bam 11.4 GB
EGAF00000602927 bam 11.0 GB
EGAF00000602928 bam 10.4 GB
EGAF00000602929 bam 8.3 GB
EGAF00000602930 bam 9.3 GB
EGAF00000602931 bam 10.6 GB
EGAF00000602932 bam 8.9 GB
EGAF00000602933 bam 7.6 GB
EGAF00000602934 bam 10.1 GB
EGAF00000602935 bam 9.7 GB
EGAF00000602936 bam 10.3 GB
60 Files (580.9 GB)