StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	27741277	Abaigar M, Robledo C, Benito R, Ramos F, Diez-Campelo M, Hermosin L, Sanchez-Del-Real J, Alonso JM, Cuello R, Megido M, Rodriguez JN, Martin-Nunez G, Aguilar C, Vargas M, Martin AA, Garcia JL, Kohlmann A, Del Canizo MC, Hernandez-Rivas JM	Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes	PLoS One	2016 Oct	13	Myelodysplastic syndromes	Array CGH	Homo sapiens	27741277_026	NimbleGen 12x135K Whole-Genome Tiling v3.0 Array	chr13:0-18544844:0;chr13:100224902-102938165:-1;chr13:102938166-103453456:0;chr13:103453457-104094273:-1;chr13:104094274-107995454:0;chr13:107995455-110269932:1;chr13:110269933-110284511:0;chr13:110284512-114302034:-1;chr13:114302035-114142980:0;chr13:18544845-20440119:1;chr13:20440120-20511838:0;chr13:20511839-24763687:1;chr13:24763688-24824898:0;chr13:24824899-25847533:1;chr13:25847534-25849288:0;chr13:25849289-30835598:1;chr13:30835599-31664375:0;chr13:31664376-32572721:-1;chr13:32572722-34556708:0;chr13:34556709-35149194:-1;chr13:35149195-35190755:0;chr13:35190756-35198796:1;chr13:35198797-35287334:0;chr13:35287335-49555063:-1;chr13:49555064-53646644:0;chr13:53646645-56086252:-1;chr13:56086253-59126704:0;chr13:59126705-59531321:-1;chr13:59531322-61887290:0;chr13:61887291-89466951:-1;chr13:89466952-89658313:0;chr13:89658314-93680622:1;chr13:93680623-93699130:0;chr13:93699131-95541444:-1;chr13:95541445-98460263:0;chr13:98460264-98747948:-1;chr13:98747949-100224901:0		LINC00417;ANKRD20A9P;RNU6-55P;RNU6-76P;LINC00408;LINC00442;RNU6-52P;TUBA3C;LOC101928697;ANKRD26P3;LINC00421;TPTE2;MPHOSPH8;PSPC1;ZMYM5;ZMYM2;LINC01072;GJA3;GJB2;GJB6;CRYL1;MIR4499;CRYL1;IFT88;IL17D;N6AMT2;XPO4;LINC00367;LATS2;SAP18;SKA3;MRPL57;LINC01046;MIPEPP3;LINC00539;ZDHHC20;MICU2;RNU6-59P;FGF9;LINC00424;LINC00540;BASP1P1;SGCG;RNU6-58P;SACS;SACS-AS1;LINC00327;TNFRSF19;MIPEP;C1QTNF9B-AS1;C1QTNF9B;ANKRD20A19P;SPATA13;MIR2276;SPATA13-AS1;C1QTNF9;PARP4;TPTE2P6;ATP12A;RNF17;CENPJ;TPTE2P1;PABPC3;AMER2;LINC00463;LINC01053;MTMR6;NUPL1;ATP8A2;RNU6-78P;ATP8A2;SHISA2;RNF6;CDK8;WASF3;GPR12;USP12;USP12-AS1;USP12-AS2;LINC00412;RPL21;SNORD102;SNORA27;RASL11A;GTF3A;MTIF3;RNU6-63P;LNX2;POLR1D;GSX1;PDX1-AS1;PDX1;ATP5EP2;CDX2;URAD;FLT3;PAN3-AS1;PAN3;RNU6-82P;FLT1;POMP;SLC46A3;RNU6-53P;MTUS2;MTUS2-AS1;SLC7A1;UBL3;LINC00297;LINC00572;LINC00544;KATNAL1;RNU6-64P;LINC00426;LINC01058;HMGB1;USPL1;ALOX5AP;LINC00398;RXFP2;EEF1DP3;FRY-AS1;FRY;ZAR1L;BRCA2;N4BP2L1;N4BP2L2;MINOS1P1;N4BP2L2-IT2;LINC00457;NBEA;NBEA;NBEA;MAB21L1;DCLK1;CCDC169-SOHLH2;SOHLH2;CCDC169;RNU6-71P;SPG20;SPG20-AS1;CCNA1;SERTM1;RFXAP;SMAD9;ALG5;EXOSC8;SUPT20H;CSNK1A1L;LINC01048;LINC00547;POSTN;TRPC4;LINC00571;UFM1;LINC00437;LINC00366;FREM2;RNU6-56P;STOML3;PROSER1;NHLRC3;LHFP;COG6;MIR4305;LINC00332;LINC00548;LINC00598;FOXO1;MIR320D1;MRPS31;SLC25A15;TPTE2P5;MIR621;SUGT1P3;ELF1;WBP4;MIR3168;KBTBD6;LOC101929140;KBTBD7;MTRF1;NAA16;RNU6-57P;OR7E37P;RGCC;VWA8;MIR5006;VWA8-AS1;DGKH;AKAP11;TNFSF11;FAM216B;LINC01050;LINC00428;EPSTI1;DNAJC15;LINC00400;ENOX1;ENOX1-AS2;CCDC122;LACC1;LINC00284;SMIM2-AS1;SMIM2;SMIM2-IT1;MIR8079;SERP2;TUSC8;TSC22D1;TSC22D1-AS1;LINC00330;NUFIP1;GPALPP1;LOC101929259;GTF2F2;RNU6-69P;KCTD4;TPT1;SNORA31;TPT1-AS1;SLC25A30;SLC25A30-AS1;COG3;ERICH6B;LINC01055;SPERT;SIAH3;ZC3H13;CPB2-AS1;CPB2;LCP1;LRRC63;LINC00563;KIAA0226L;RNU6-68P;LINC01198;LRCH1;ESD;HTR2A;HTR2A-AS1;LINC00562;SUCLA2;NUDT15;MED4;MED4-AS1;ITM2B;LINC00441;RB1;LPAR6;RCBTB2;LINC00462;CYSLTR2;FNDC3A;MLNR;CDADC1;CAB39L;SETDB2;PHF11;RCBTB1;LINC00458;MIR1297;MIR5007;LINC00358;LINC01075;LINC00448;LINC00376;LINC00395;OR7E156P;RNU6-81P;LOC102723968;MIR548X2;MIR4704;PCDH9;PCDH9-AS2;PCDH9-AS3;PCDH9-AS4;LINC00364;LINC00550;LINC00383;KLHL1;ATXN8OS;LINC00348;DACH1;MZT1;BORA;DIS3;PIBF1;RNU6-79P;KLF5;RNU6-66P;LINC00392;KLF12;LINC00381;LINC00347;CTAGE11P;TBC1D4;COMMD6;UCHL3;LMO7-AS1;LMO7;LMO7DN;LMO7DN-IT1;KCTD12;BTF3P11;IRG1;CLN5;FBXL3;MYCBP2;MYCBP2-AS1;SCEL;SCEL-AS1;SLAIN1;MIR3665;EDNRB-AS1;EDNRB;LINC01069;LINC00446;RNF219-AS1;POU4F1;RNF219;LINC00331;RBM26;RBM26-AS1;NDFIP2-AS1;NDFIP2;LINC01068;LINC01038;LINC00382;LINC01080;SPRY2;LINC00377;LINC00564;RNU6-67P;SLITRK1;LINC00333;LINC00375;LINC00351;RNU6-72P;SLITRK6;MIR4500HG;MIR4500;SLITRK5;LINC00397;LINC00433;LINC00440;LINC00559;MIR622;LIN01049;RNU-75P;LINC00410;LINC00380;LINC00379;MIR17HG;MIR17;MIR18A;MIR19A;MIR20A;MIR19B1;MIR92A1;GPC5;GPC5-AS2;MIR48AS;GPC5-AS1;LIN00363;GPC6;GPC6-AS2;GPC6-AS1;DCT;TGDS;GPR180;LOC101927248;SOX21;SOX21-AS1;LINC00557;ABCC4;CLDN10;CLDN10-AS1;STK24;SLC15A1;PCCA;PCCA-AS1;GGACT;TMTC4;NALCN-AS1;LINC00411;NALCN;ITGBL1;FGF14;MIR2681;MIR4705;FGF14-IT1;FGF14-AS1;FGF14-AS2;TPP2;METTL21C;CCDC168;TEX30;KDELC1;BIVM;BIVM-ERCC5;ERCC5;METTL21EP;LIG4;ABHD13;TNFSF13B;MYO16;MYO16-AS1;LINC00399;LINC00676;IRS2;LINC00396;COL4A1;COL4A1;COL4A2;MIR8073;COL4A2-AS1;RAB20;CARKD;CARS2;ING1;LINC00346;ANKRD10;LINC00431;LINC00368;ARHGEF7;ARHGEF7-AS1;LOC101060553;TEX29;LINC00354;LINC00403;SOX1;LINC01070;LOC101928730;LINC01044;SPACA7;TUBGCP3;ATP11AUN;ATP11A;ATP11A-AS1;MCF2L-AS1;MCF2L;F7;F10;F10-AS1;PROZ;PCID2;CUL4A;MIR8075;LAMP1;GRTP1;GRTP1-AS1;LOC101928841;ADPRHL1;DCUN1D2;TMCO3;TFDP1;ATP4B;GRK1;LINC00552;TMEM255B;GAS6-AS1;GAS6;GAS6-AS2;LINC00452;LINC00565;RASA3;CDC16;MIR548AR;MIR4502;UPF3A	Unidad de Diagnostico Molecular y Celular del Cancer, Centro de Investigacion del Cancer-IBMCC (USAL-CSIC), Salamanca, Spain	comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS/myeloproliferative neoplasms (MPN) patients. 301 patients diagnosed with MDS (n = 240) or MDS/MPN (n = 61) were studied at the time of diagnosis. A genome-wide analysis of DNA copy number abnormalities was performed. In addition, a mutational analysis of DNMT3A, TET2, RUNX1, TP53 and BCOR genes was performed by NGS in selected cases. 285 abnormalities were identified in 71 patients (23.6%). Three high-risk MDS cases (1.2%) displayed chromothripsis involving exclusively chromosome 13 and affecting some cancer genes: FLT3, BRCA2 and RB1. All three cases carried TP53 mutations as revealed by NGS. Moreover, in the whole series, the integrative analysis of aCGH and NGS enabled the identification of cryptic recurrent deletions in 2p23.3 (DNMT3A; n = 2.8%), 4q24 (TET2; n = 10%) 17p13 (TP53; n = 8.5%), 21q22 (RUNX1; n = 7%), and Xp11.4 (BCOR; n = 2.8%), while mutations in the non-deleted allele where found only in DNMT3A (n = 1), TET2 (n = 3), and TP53 (n = 4). These cryptic abnormalities were detected mainly in patients with normal (45%) or non-informative (15%) karyotype by conventional cytogenetics, except for those with TP53 deletion and mutation (15%), which had a complex karyotype. In addition to well-known copy number defects, the presence of chromothripsis involving chromosome 13 was a novel recurrent change in high-risk MDS patients. Array CGH analysis revealed the presence of cryptic abnormalities in genomic regions where MDS-related genes, such as TET2, DNMT3A, RUNX1 and BCOR, are located.	GRCh36/hg18	GSE67682			Yes	
Research	27741277	Abaigar M, Robledo C, Benito R, Ramos F, Diez-Campelo M, Hermosin L, Sanchez-Del-Real J, Alonso JM, Cuello R, Megido M, Rodriguez JN, Martin-Nunez G, Aguilar C, Vargas M, Martin AA, Garcia JL, Kohlmann A, Del Canizo MC, Hernandez-Rivas JM	Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes	PLoS One	2016 Oct	13	Myelodysplastic syndromes	Array CGH	Homo sapiens	27741277_027	NimbleGen 12x135K Whole-Genome Tiling v3.0 Array	chr13:0-18544844:0;chr13:111268759-114302034:1;chr13:114302035-114142980:0;chr13:18544845-28026673:1;chr13:28026674-28092710:0;chr13:28092711-31753393:1;chr13:31753394-31778817:0;chr13:31778818-31923805:-1;chr13:31923806-31934278:0;chr13:31934279-32178937:1;chr13:32178938-32205508:0;chr13:32205509-34693503:-1;chr13:34693504-34738108:0;chr13:34738109-40773999:1;chr13:40774000-40964446:0;chr13:40964447-41385529:-1;chr13:41385530-41393215:0;chr13:41393216-46380250:1;chr13:46380251-46419481:0;chr13:46419482-51739755:-1;chr13:51739756-95471065:0;chr13:95471066-95645135:1;chr13:95645136-111268758:0		LINC00417;ANKRD20A9P;RNU6-55P;RNU6-76P;LINC00408;LINC00442;RNU6-52P;TUBA3C;LOC101928697;ANKRD26P3;LINC00421;TPTE2;MPHOSPH8;PSPC1;ZMYM5;ZMYM2;LINC01072;GJA3;GJB2;GJB6;CRYL1;MIR4499;IFT88;IL17D;N6AMT2;XPO4;LINC00367;LATS2;SAP18;SKA3;MRPL57;LINC01046;MIPEPP3;LINC00539;ZDHHC20;MICU2;RNU6-59P;FGF9;LINC00424;LINC00540;BASP1P1;SGCG;RNU6-58P;SACS;SACS-AS1;LINC00327;TNFRSF19;MIPEP;C1QTNF9B-AS1;C1QTNF9B;ANKRD20A19P;SPATA13;MIR2276;SPATA13-AS1;C1QTNF9;PARP4;TPTE2P6;ATP12A;RNF17;CENPJ;TPTE2P1;PABPC3;AMER2;LINC00463;LINC01053;MTMR6;NUPL1;ATP8A2;RNU6-78P;SHISA2;RNF6;CDK8;WASF3;GPR12;USP12;USP12-AS1;USP12-AS2;LINC00412;RPL21;SNORD102;SNORA27;RASL11A;GTF3A;MTIF3;RNU6-63P;LNX2;POLR1D;GSX1;PDX1-AS1;PDX1;ATP5EP2;CDX2;URAD;FLT3;FLT3;PAN3-AS1;PAN3;RNU6-82P;FLT1;POMP;SLC46A3;RNU6-53P;MTUS2;MTUS2-AS1;SLC7A1;UBL3;LINC00297;LINC00572;LINC00544;KATNAL1;RNU6-64P;LINC00426;LINC01058;HMGB1;USPL1;ALOX5AP;LINC00398;LINC00545;TEX26-AS1;MEDAG;TEX26;HSPH1;B3GALTL;RXFP2;RXFP2;EEF1DP3;EEF1DP3;FRY-AS1;FRY;FRY;ZAR1L;BRCA2;N4BP2L1;N4BP2L2;MINOS1P1;N4BP2L2-IT2;N4BP2L2;PDS5B;LINC00423;KL;STARD13;STARD13-AS;RFC3;LINC00457;NBEA;MAB21L1;DCLK1;SOHLH2;CCDC169-SOHLH2;CCDC169;RNU6-71P;SPG20;SPG20-AS1;CCNA1;SERTM1;RFXAP;SMAD9;ALG5;EXOSC8;SUPT20H;CSNK1A1L;LINC01048;LINC00547;POSTN;TRPC4;LINC00571;UFM1;LINC00437;LINC00366;FREM2;RNU6-56P;STOML3;PROSER1;NHLRC3;LHFP;COG6;MIR4305;LINC00332;LINC00548;LINC00598;FOXO1;MIR320D1;MRPS31;ELF1;WBP4;MIR3168;KBTBD6;LOC101929140;KBTBD7;MTRF1;NAA16;RNU6-57P;OR7E37P;RGCC;VWA8;MIR5006;VWA8-AS1;DGKH;AKAP11;TNFSF11;FAM216B;LINC01050;LINC00428;EPSTI1;DNAJC15;LINC00400;ENOX1;ENOX1-AS2;CCDC122;LACC1;LINC00284;SMIM2-AS1;SMIM2;SMIM2-IT1;MIR8079;SERP2;TUSC8;TSC22D1;TSC22D1-AS1;LINC00330;NUFIP1;GPALPP1;LOC101929259;GTF2F2;RNU6-69P;KCTD4;TPT1;SNORA31;TPT1-AS1;SLC25A30;SLC25A30-AS1;COG3;ERICH6B;LINC01055;SPERT;SIAH3;ZC3H13;CPB2-AS1;CPB2;LCP1;LRRC63;LINC00563;KIAA0226L;LINC01198;LRCH1;ESD;HTR2A;HTR2A-AS1;LINC00562;SUCLA2;NUDT15;MED4;MED4-AS1;ITM2B;LINC00441;RB1;LPAR6;RCBTB2;LINC00462;CYSLTR2;FNDC3A;MLNR;CDADC1;CAB39L;SETDB2;PHF11;RCBTB1;ARL11;EBPL;KPNA3;CTAGE10P;SPRYD7;DLEU2;MIR3613;TRIM13;KCNRG;MIR16-1;MIR15A;DLEU1;ST13P4;DLEU1-AS1;DLEU7;DLEU7-AS1;RNASEH2B-AS1;RNASEH2B;GUCY1B2;LINC00371;FAM124A;SERPINE3;MIR5693;INTS6;INTS6-AS1;MIR4703;WDFY2;CLDN10;CLDN10-AS1;DZIP1;ARHGEF7;TEX29;LINC00354;LINC00403;SOX1;LINC01070;LOC101928730;LINC01044;SPACA7;TUBGCP3;ATP11AUN;ATP11A;ATP11A-AS1;MCF2L-AS1;MCF2L;F7;F10;F10-AS1;PROZ;PCID2;CUL4A;MIR8075;LAMP1;GRTP1;GRTP1-AS1;LOC101928841;ADPRHL1;DCUN1D2;TMCO3;TFDP1;ATP4B;GRK1;LINC00552;TMEM255B;GAS6-AS1;GAS6;GAS6-AS2;LINC00452;LINC00565;RASA3;CDC16;MIR548AR;MIR4502;UPF3A	Unidad de Diagnostico Molecular y Celular del Cancer, Centro de Investigacion del Cancer-IBMCC (USAL-CSIC), Salamanca, Spain	comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS/myeloproliferative neoplasms (MPN) patients. 301 patients diagnosed with MDS (n = 240) or MDS/MPN (n = 61) were studied at the time of diagnosis. A genome-wide analysis of DNA copy number abnormalities was performed. In addition, a mutational analysis of DNMT3A, TET2, RUNX1, TP53 and BCOR genes was performed by NGS in selected cases. 285 abnormalities were identified in 71 patients (23.6%). Three high-risk MDS cases (1.2%) displayed chromothripsis involving exclusively chromosome 13 and affecting some cancer genes: FLT3, BRCA2 and RB1. All three cases carried TP53 mutations as revealed by NGS. Moreover, in the whole series, the integrative analysis of aCGH and NGS enabled the identification of cryptic recurrent deletions in 2p23.3 (DNMT3A; n = 2.8%), 4q24 (TET2; n = 10%) 17p13 (TP53; n = 8.5%), 21q22 (RUNX1; n = 7%), and Xp11.4 (BCOR; n = 2.8%), while mutations in the non-deleted allele where found only in DNMT3A (n = 1), TET2 (n = 3), and TP53 (n = 4). These cryptic abnormalities were detected mainly in patients with normal (45%) or non-informative (15%) karyotype by conventional cytogenetics, except for those with TP53 deletion and mutation (15%), which had a complex karyotype. In addition to well-known copy number defects, the presence of chromothripsis involving chromosome 13 was a novel recurrent change in high-risk MDS patients. Array CGH analysis revealed the presence of cryptic abnormalities in genomic regions where MDS-related genes, such as TET2, DNMT3A, RUNX1 and BCOR, are located.	GRCh36/hg18	GSE67682			Yes	
Research	27741277	Abaigar M, Robledo C, Benito R, Ramos F, Diez-Campelo M, Hermosin L, Sanchez-Del-Real J, Alonso JM, Cuello R, Megido M, Rodriguez JN, Martin-Nunez G, Aguilar C, Vargas M, Martin AA, Garcia JL, Kohlmann A, Del Canizo MC, Hernandez-Rivas JM	Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes	PLoS One	2016 Oct	13	Myelodysplastic syndromes	Array CGH	Homo sapiens	27741277_072	NimbleGen 12x135K Whole-Genome Tiling v3.0 Array	chr13:0-20223376:0;chr13:105600013-114142980:0;chr13:20223377-21774751:1;chr13:21774752-26008549:0;chr13:26008550-26823821:-1;chr13:26823822-26843551:0;chr13:26843552-29141245:1;chr13:29141246-29153048:0;chr13:29153049-29574970:-1;chr13:29574971-29598385:0;chr13:29598386-31092176:1;chr13:31092177-31109870:0;chr13:31109871-31349780:-1;chr13:31349781-31421871:0;chr13:31421872-31860544:1;chr13:31860545-31902741:0;chr13:31902742-35957157:-1;chr13:35957158-38324761:0;chr13:38324762-38995506:-1;chr13:38995507-39018272:0;chr13:39018273-42380430:1;chr13:42380431-43688279:0;chr13:43688280-45546500:1;chr13:45546501-45555481:0;chr13:45555482-82820718:-1;chr13:82820719-82942589:0;chr13:82942590-83487314:1;chr13:83487315-83666678:0;chr13:83666679-88672589:-1;chr13:88672590-89658313:0;chr13:89658314-92345411:1;chr13:92345412-92419919:0;chr13:92419920-105600012:-1		GJB6;CRYL1;MIR4499;IFT88;IL17D;N6AMT2;XPO4;LINC00367;LATS2;SAP18;SKA3;MRPL57;LINC01046;MIPEPP3;LINC00539;ZDHHC20;MICU2;RNU6-59P;FGF9;ATP8A2;SHISA2;RNF6;CDK8;WASF3;GPR12;USP12;USP12-AS1;USP12-AS2;LINC00412;RPL21;SNORD102;SNORA27;RASL11A;GTF3A;MTIF3;RNU6-63P;LNX2;POLR1D;GSX1;PDX1-AS1;PDX1;ATP5EP2;CDX2;URAD;FLT3;PAN3-AS1;PAN3;RNU6-82P;FLT1;POMP;SLC46A3;RNU6-53P;MTUS2;MTUS2;MTUS2-AS1;SLC7A1;UBL3;LINC00297;LINC00572;LINC00544;KATNAL1;RNU6-64P;LINC00426;LINC01058;HMGB1;USPL1;ALOX5AP;LINC00398;LINC00545;TEX26-AS1;MEDAG;TEX26;HSPH1;B3GALTL;RXFP2;EEF1DP3;EEF1DP3;FRY-AS1;FRY;ZAR1L;BRCA2;N4BP2L1;N4BP2L2;MINOS1P1;N4BP2L2-IT2;N4BP2L2;PDS5B;LINC00423;KL;STARD13;STARD13-AS;RFC3;LINC00457;NBEA;MAB21L1;DCLK1;UFM1;LIN00437;LINC00366;FREM2;RNU6-56P;STOML3;PROSER1;NHLRC3;LHFP;COG6;MIR4305;LINC00332;LINC00548;LINC00598;FOXO1;MIR320D1;MRPS31;SLC25A15;TPTE2P5;MIR621;SUGT1P3;ELF1;WBP4;MIR3168;KBTBD6;LOC101929140;KBTBD7;MTRF1;NAA16;RNU6-57P;OR7E37P;RGCC;VWA8;MIR5006;VWA8-AS1;DGKH;AKAP11;ENOX1;CCDC122;LACC1;LINC00284;SMIM2-AS1;SMIM2;SMIM2-IT1;MIR8079;SERP2;TUSC8;TSC22D1;TSC22D1-AS1;LINC00330;NUFIP1;GPALPP1;LOC101929259;GTF2F2;RNU6-69P;KCTD4;TPT1;SNORA31;TPT1-AS1;SLC25A30;SLC25A30-AS1;COG3;ERICH6B;ERICH6B;LINC01055;SPERT;SIAH3;ZC3H13;CPB2-AS1;CPB2;LCP1;LRRC63;LINC00563;KIAA0226L;RNU6-68P;LINC01198;LRCH1;ESD;HTR2A;HTR2A-AS1;LINC00562;SUCLA2;NUDT15;MED4;MED4-AS1;ITM2B;LINC00441;RB1;LPAR6;RCBTB2;LINC00462;CYSLTR2;FNDC3A;MLNR;CDADC1;CAB39L;SETDB2;PHF11;RCBTB1;ARL11;EBPL;KPNA3;CTAGE10P;SPRYD7;DLEU2;MIR3613;TRIM13;KCNRG;MIR16-1;MIR15A;DLEU1;ST13P4;DLEU1-AS1;DLEU7;DLEU7-AS1;RNASEH2B-AS1;RNASEH2B;GUCY1B2;LINC00371;FAM124A;SERPINE3;MIR5693;INTS6;INTS6-AS1;MIR4703;WDFY2;DHRS12;LINC00282;CCDC70;ATP7B;ALG11;UTP14C;NEK5;LOC101929657;NEK3;MRPS31P5;LOC103191607;THSD1;VPS36;CKAP2;TPTE2P3;HNRNPA1L2;SUGT1;LECT1;MIR759;PCDH8;OLFM4;LINC01065;LINC00558;LINC00458;MIR1297;MIR5007;PRR20C;PRR20B;PRR20A;PRR20D;PRR20E;PCDH17;LOC101926897;DIAPH3;DIAPH3-AS1;DIAPH3-AS2;LINC00434;TDRD3;LINC00378;MIR3169;PCDH20;LINC00358;LINC01075;LINC00448;LINC00376;LINC00395;OR7E156P;RNU6-81P;LOC102723968;MIR548X2;MIR4704;PCDH9;PCDH9-AS2;PCDH9-AS3;PCDH9-AS4;LINC00364;LINC00550;LINC00383;KLHL1;ATXN8OS;LINC00348;DACH1;MZT1;BORA;DIS3;PIBF1;RNU6-79P;KLF5;RNU6-66P;LINC00392;KLF12;LINC00381;LINC00347;CTAGE11P;TBC1D4;COMMD6;UCHL3;LMO7-AS1;LMO7;LMO7DN;LMO7DN-IT1;KCTD12;BTF3P11;IRG1;CLN5;FBXL3;MYCBP2;MYCBP2-AS1;SCEL;SCEL-AS1;SLAIN1;MIR3665;EDNRB-AS1;EDNRB;LINC01069;LINC00446;RNF219-AS1;POU4F1;RNF219;LINC00331;RBM26;RBM26-AS1;NDFIP2-AS1;NDFIP2;LINC01068;LINC01038;LINC00382;LINC01080;SPRY2;LINC00377;LINC00564;RNU6-67P;SLITRK1;LINC00333;LIN00375;LINC00351;RNU6-72P;SLITRK6;MIR4500HG;MIR4500;SLITRK5;LINC00397;LINC00433;LINC00559;MIR622;LINC01049;RNU6-75P;LINC00410;LINC00380;LINC00379;MIR17HG;MIR17;MIR18A;MIR19A;MIR20A;MIR19B1;MIR92A1;GPC5;GPC5-AS2;GPC5;MIR548AS;GPC5-AS1;LINC00363;GPC6;GPC6-AS2;GPC6-AS1;DCT;TGDS;GPR180;LOC101927248;SOX21;SOX21-AS1;LOC101927284;LINC00557;ABCC4;CLDN10;CLDN10-AS1;DZIP1;DNAJC3;UGGT2;HS6ST3;MIR4501;LINC00359;OXGR1;LINC00456;MBNL2;RAP2A;IPO5;FARP1;RNF113B;MIR3170;STK24;SLC15A1;DOCK9;DOCK9-AS1;RNU6-83P;DOCK9-AS2;UBAC2-AS1;UBAC2;GPR18;GPR183;FKSG29;MIR623;LINC01232;TM9SF2;LINC01039;CLYBL;MIR4306;CLYBL-AS2;CLYBL-AS1;LOC101927437;ZIC5;ZIC2;LINC00554;PCCA;PCCA-AS1;GGACT;TMTC4;NALCN-AS1;LINC00411;NALCN;ITGBL1;FGF14;MIR2681;MIR4705;FGF14-IT1;FGF14-AS1;FGF14-AS2;TPP2;METTL21C;CCDC168;TEX30;KDELC1;BIVM;BIVM-ERCC5;ERCC5;METTL21EP;SLC10A2;LINC01309;DAOA-AS1;DAOA	Unidad de Diagnostico Molecular y Celular del Cancer, Centro de Investigacion del Cancer-IBMCC (USAL-CSIC), Salamanca, Spain	comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS/myeloproliferative neoplasms (MPN) patients. 301 patients diagnosed with MDS (n = 240) or MDS/MPN (n = 61) were studied at the time of diagnosis. A genome-wide analysis of DNA copy number abnormalities was performed. In addition, a mutational analysis of DNMT3A, TET2, RUNX1, TP53 and BCOR genes was performed by NGS in selected cases. 285 abnormalities were identified in 71 patients (23.6%). Three high-risk MDS cases (1.2%) displayed chromothripsis involving exclusively chromosome 13 and affecting some cancer genes: FLT3, BRCA2 and RB1. All three cases carried TP53 mutations as revealed by NGS. Moreover, in the whole series, the integrative analysis of aCGH and NGS enabled the identification of cryptic recurrent deletions in 2p23.3 (DNMT3A; n = 2.8%), 4q24 (TET2; n = 10%) 17p13 (TP53; n = 8.5%), 21q22 (RUNX1; n = 7%), and Xp11.4 (BCOR; n = 2.8%), while mutations in the non-deleted allele where found only in DNMT3A (n = 1), TET2 (n = 3), and TP53 (n = 4). These cryptic abnormalities were detected mainly in patients with normal (45%) or non-informative (15%) karyotype by conventional cytogenetics, except for those with TP53 deletion and mutation (15%), which had a complex karyotype. In addition to well-known copy number defects, the presence of chromothripsis involving chromosome 13 was a novel recurrent change in high-risk MDS patients. Array CGH analysis revealed the presence of cryptic abnormalities in genomic regions where MDS-related genes, such as TET2, DNMT3A, RUNX1 and BCOR, are located.	GRCh36/hg18	GSE67682			Yes