StudyType PubMedID Author Title Journal PublishDate Chromosome Disease Technology Species CaseID Platform CNA Connection Gene Affiliation Abstract GenomeAssembly GEO dbGaP ENA IsCancer FusionGene Research 24670920 Fernandez-Cuesta L, Peifer M, Lu X, Sun R, Ozretic L, Seidel D, Zander T, Leenders F, George J, Muller C, Dahmen I, Pinther B, Bosco G, Konrad K, Altmuller J, Nurnberg P, Achter V, Lang U, Schneider PM, Bogus M, Soltermann A, Brustugun OT, Helland A, Solberg S, Lund-Iversen M, Ansen S, Stoelben E, Wright GM, Russell P, Wainer Z, Solomon B, Field JK, Hyde R, Davies MP, Heukamp LC, Petersen I, Perner S, Lovly CM, Cappuzzo F, Travis WD, Wolf J, Vingron M, Brambilla E, Haas SA, Buettner R, Thomas RK Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids Nature Communications 2014 Mar 3,12,13 Pulmonary carcinoid Next Generation Sequencing Homo sapiens S00076 Illumina HiSeq2000 hs13:39540810-39541129,hs13:98628918-98634837;hs3:158072644-158262115,hs3:71630699-71630803;hs12:109490434-109495913,hs3:14239528-14239844;hs12:300116-304493,hs3:44490051-44492076;hs3:96706171-96706835,hs12:122243069-122244011;hs12:50571665-50575822,hs12:96679820-96683000;hs12:46123831-46125097,hs3:87299023-87302616;hs3:136581127-136647070,hs3:52156413-52159199;hs12:2906302-2913091,hs3:123550392-123550519;hs3:50471768-50513632,hs3:191047373-191047513;hs13:101707771-101712320,hs3:41268694-41268843;hs12:102517663-102517819,hs3:196678758-196678907;hs12:111057640-111066662,hs12:110002923-110011184;hs3:184684462-184711853,hs13:99908581-99908773;hs3:73651503-73673326,hs3:45707139-45714272;hs13:98086751-98087039,hs12:97303528-97306595;hs13:39917770-40175529,hs3:4725988-4726891;hs12:51818672-51818821,hs13:109817246-109817341;hs12:2102428-2113491,hs3:17447909-17448018;hs3:151597637-151598493,hs3:121544895-121547378;hs3:160783186-160783320,hs3:47956305-47956395;hs3:136471036-136471179,hs3:130744346-130744440 STOML3;1IPO5;RSRC1;1FOXP1;USP30;1LSM3;SLC6A12;1ZNF445;SETD1B;IEPHA6;CDK17;1LIMA1;ARID2;ICHMP2B;POC1A;1NCK1;FKBP4;1MYLK;CACNA2D2;1CCDC50;CTNNB1;1NALCN;C12orf48;1PIGZ;TCTN1;1MMAB;GPR18;1VPS8;PDZRN3;1LIMD1;NEDD1;1RAP2A;LHFP;1ITPR1;LOC100288040;1MYO16;TBC1D5;1DCP1B;SUCNR1;1IQCB1;PPM1L;1MAP4;STAG1;IASTE1; Department of Translational Genomics, Center of Integrated Oncology Cologne-Bonn, Medical Faculty, University of Cologne, 50924 Cologne, Germany 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 (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. GRCh37/hg19 Yes ARID2,ICHMP2B;C12orf48,1PIGZ;CACNA2D2,1CCDC50;CDK17,1LIMA1;CTNNB1,1NALCN;FKBP4,1MYLK;GPR18,1VPS8;LHFP,1ITPR1;LOC100288040,1MYO16;NEDD1,1RAP2A;PDZRN3,1LIMD1;POC1A,1NCK1;PPM1L,1MAP4;RSRC1,1FOXP1;SETD1B,IEPHA6;SLC6A12,1ZNF445;STAG1,IASTE1;STOML3,1IPO5;SUCNR1,1IQCB1;TBC1D5,1DCP1B;TCTN1,1MMAB;USP30,1LSM3