Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

Study ID Alternative Stable ID Type
EGAS00001000650 Other

Study Description

Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular alterations underlying the pathogenesis of these tumours have not been systematically studied so far. Here we perform gene copy number analysis (n¼54), genome/exome (n¼44) and transcriptome (n¼69) sequencing of pulmonary carcinoids and observe frequent mutations in chromatin-remodelling genes. Covalent histone modifiers and subunits of the SWI/SNF complex are mutated in 40 and 22.2% of the cases, respectively, with MEN1, PSIP1 and ARID1A being recurrently affected. In contrast to small-cell lung cancer and large-cell neuroendocrine tumours, TP53 and RB1 mutations are rare events, suggesting that pulmonary carcinoids are not early progenitor lesions of the highly aggressive lung neuroendocrine tumors but arise through independent cellular mechanisms. These data also suggest that inactivation of chromatinremodelling genes is sufficient to drive transformation in pulmonary carcinoids.

Study Datasets 4 datasets.

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Dataset ID Description Technology Samples
Fernandez-Cuesta et al, 2014, Nature Communication, RNA Sequencing data set
Illumina HiSeq 2000 69
Fernandez-Cuesta et al., 2014, Nature Communication, Whole genome sequencing was performed using a read length of 2x100 bp for all samples. On average, 110 Gb of sequence were produced per sample, aiming a mean coverage of 30x for both tumour and matched normal.
Illumina HiSeq 2000 29
Fernandez-Cuesta et al, 2014, Nature Communication, Whole exome sequencing data set
Illumina HiSeq 2000 15
SNP 6.0 arrays of carcinoid samples
Affymetrics_SNP_6.0- 74

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