EGAGenomicsAffymetrics_SNP_6.0-https://ega-archive.org/datasets/EGAD0001000054674EGA dataset EGAD00010000546EGAPulmonary 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 (n=54), genome/exome (n=44) and transcriptome (n=69) 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 lung tumours, TP53 and RB1 mutations are rare events, suggesting that pulmonary carcinoids are not early progenitor lesions of the highly aggressive lung neuroendocrine tumours but arise through independent cellular mechanisms. These data also suggest that inactivation of chromatin-remodelling genes is sufficient to drive transformation in pulmonary carcinoids.Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.Fernandez-Cuesta Lynnette L, Peifer Martin M, Lu Xin X, Sun Ruping R, Ozretić Luka L, Seidal Danila D, Zander Thomas T, Leenders Frauke F, George Julie J, Müller Christian C, Dahmen Ilona I, Pinther Berit B, Bosco Graziella G, Konrad Kathryn K, Altmüller Janine J, Nürnberg Peter P, Achter Viktor V, Lang Ulrich U, Schneider Peter M PM, Bogus Magdalena M, Soltermann Alex A, Brustugun Odd Terje OT, Helland Åslaug Å, Solberg Steinar S, Lund-Iversen Marius M, Ansén Sascha S, Stoelben Erich E, Wright Gavin M GM, Russell Prudence P, Wainer Zoe Z, Solomon Benjamin B, Field John K JK, Hyde Russell R, Davies Michael Pa MP, Heukamp Lukas C LC, Petersen Iver I, Perner Sven S, Lovly Christine C, Cappuzzo Federico F, Travis William D WD, Wolf Jürgen J, Vingron Martin M, Brambilla Elisabeth E, Haas Stefan A SA, Buettner Reinhard R, Thomas Roman K RKCG11478, Dmel_CG6393, DmelCG42257, snp, cg11478, CG30327, 65K, CG6393, CG42257, Dmel_CG30327.NET G1, Dmel_CG6393, DmelCG42257, cg11478, carcinoid tumour (disease), carcinoid tumor (disease), carcinoid tumor, CG30327, Carcinoids, Tumor, Carcinoid, Goblet Cell, CG11478, Argentaffinomas, Goblet Cell Carcinoids., 65K, carcinoid, Carcinoid Tumors, CG6393, neuroendocrine tumour G1, CG42257, Dmel_CG30327, snp, neuroendocrine tumor G1, Argentaffinoma, neuroendocrine neoplasm G1, Goblet Cell Carcinoid, Tumorsnuclear chromatin, Mutations, cytoplasmic chromatin, high frequency, Materials, frequent, Genetic, Material, chromosome scaffold, Genetic Materials, Cistron, Gene, Genetic Material., Cistrons, ChromatinsRB1, type 1, poorly differentiated endocrine neoplasm, Materials, determination, Lung Oat Cell Carcinoma, acetylglucosaminyltransferase-like protein, neoplasia, endocrine adenomatosis multiple, oat cell lung carcinoma, positive regulation by symbiont of host non-apoptotic programmed cell death, Smarcf1, Mbp1, Gene Expression Profile, Profiles, RBF, Tumor, Tp53, P270, Mutations, small cell cancer of the lung, dmTAF[[II]]230, Histone H2b, BAF250a, RBR, Histone H2a, AA408851, CG13778, parenchyma of lung, oat cell carcinoma of the lung, bbl, RB, rb, pathogenesis, RETINOBLASTOMA PROTEIN, rbf, myd, Fs(3)Hor, Chromatins, Small Cell Carcinoma of the Lung, LEDGF, DmelCG2684, stimulation by symbiont of host programmed cell death, AU015605, like-acetylglucosaminyltransferase, TFIID TAF250, Genomes, BCC7, cel, cell process disease, tumor disease, pp110, neoplasm (disease), Rb, small cell neuroendocrine carcinoma of the lung, Ledgf, Mbp-1, NTef2, oat cell carcinoma of lung, Signatures, high frequency, Expression Signature, chromosome scaffold, Transcriptomes, Histone H5, Histone H4, Histone H7, Small cell lung cancer, CG7413, Psip2, tumor, Histone H1, ELD, somatic mutation, Histone H3, CG33266, Tumors, nuclear chromatin, hOSA1, small-cell lung cancer, retinoblastoma-related 1, dTAF[[II]]230, pulmo, Oat Cell Carcinomas, gyltl1b-b, rbf1, Expression Profiles, lung parenchyma, TAF200, retinoblastoma, neoplastic disease, TAFII-250, small cell carcinoma of lung, TAF250/230, RETINOBLASTOMA 1, tumours, hereditary retinoblastoma, SCLC - Small cell lung cancer, Fs(3)Sz11, Gene Expression, TAFII250, Drives., MDDGA6, Expression Signatures, mKIAA0609, modulation by symbiont of host system process, Genetic Materials, ATRBR1, B120, bfy, KIAA0609, Expression Profile, neoplasms, Genetic Material, acetylglucosaminyltransferase-like 1A, Transcriptome Profiles, fg, pRb, Oat Cell Carcinoma, Small Cell Neuroendocrine Carcinoma of Lung, gyltl1b, DmelCG7413, SBP75, Osa1, OSA1, mdc1d, Exomes, INSDC_feature:gene, whole genome, mnn1, CG17603, LARGE_HUMAN, TAF[[II]], early, MDC1D, p105-Rb, multiple, enr, pulmonary, Taf250, familial retinoblastoma, Material, SR3-5, Horka, activation by symbiont of host programmed cell death, P53, CG2684, p44, Fs(3)Horka, bhy, Cistron, Ledgfb, EG:34F3.3, other neoplasm, Ledgfa, PAIP, TAF230, Rbf1, RBF1, whole exome, cytoplasmic chromatin, d230, Transcriptome Profile, FBF, p52, small cell lung carcinoma, Neoplasms, regulation by symbiont of host system process, p53, number, Gene, dTAFII250, small cell lung cancer, EfW1, LFS1, presence, LARGE1, autosomal dominant, dRBF, Menin1, froggy, NEOPL, MEN1, Gyltl1a, hELD, eye cancer, MEA 1, induction by organism of non-apoptotic programmed cell death in other organism during symbiotic interaction, dmTAF1, Taf230, Oat cell carcinoma of lung, lung, OSRC, DmelCG13778, DmF2, Small Cell Carcinoma of Lung, neoplasm, Histone H3.3, SCG2, TAF250, lod, Dfs70, Taf200, dTAF[[II]]250, Genetic, cell, MDDGB6, Profile, p75, Lung Small Cell Neuroendocrine Carcinoma, SWI-SNF complex, lung small cell neuroendocrine carcinoma, BAF250, multiple endocrine neoplasia, menin, Taf1p, tumour, LARGE, causes, oat cell carcinoma (morphologic abnormality), BPFD#36, dTAF250, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS), Trp53, small cell carcinoma of lung (disorder), lung small cell carcinoma, causality, AW045611, lung oat cell carcinoma, DFS70, TRP53, TAF, Neoplastic Growth, oat cell carcinoma, TAF[[II]]250, PSIP2, Oat Cell Lung Carcinoma, activation by organism of non-apoptotic programmed cell death in other organism, Transcriptome, SMARCF1, BM029, hemolysin activity, Small Cell Neuroendocrine Carcinoma of the Lung, l(3)84Ab, BG:DS00004.13, Cistrons, Histone, Cell, Xp53, dTAF230, small cell neuroendocrine carcinoma of lung, small cell carcinoma of the lung, endocrine adenomatosis, count in organism, neoplastic growth, p230, 1110030E03Rik, chemical analysis, Gene Expression Signatures, MEN1 somatic mutations, TAF[[II]]250/230, PPP1R130, TFIID, rare (European definition), Gene Expression Signature, MRD14, Taf[[II]]250, C1orf4, TAF[[II]]230, frequent, Rb-1, Oat cell carcinoma of lung (disorder), TAF[II]250, Lds, disease of cellular proliferation, Histone H1(s), Rb1, SCLC, MEAI, DmelCG17603, like-glycosyltransferase, Gene Expression Profiles, cardinality, RETINOBLASTOMA-RELATED PROTEIN 1, RETINOBLASTOMA-RELATED, Oat Cell Carcinoma of the Lung, Lungs, assay, Signature, RbF, trilateral, SCLC1, NEOPLASMS BENIGN, Neoplasia, glycosyltransferase-like protein LARGE1, TAF1falseCA_SNP_6.0 - samplesSNP 6.0 arrays of carcinoid samples2017-07-26 15:39:25EGAD00010000546960624670920EGAC00001000064EGAS00001000650