EGAGenomicsILLUMINA, Illumina HiSeq 2000Otherhttps://ega-archive.org/studies/EGAS00001002183EGAEGA study EGAS00001002183DATA FILES FOR GRUBER SJAMLM7 RNASEQDATA FILES FOR GRUBER SJAMLM7 EXOMErestrictedEGAHTRX1, ZMYND4, Trisomy 21 NOS, Ribonucleic, Acute Megakaryoblastic Leukemias, Materials, Myeloid, acute non lymphoblastic leukemia, adult stage, nup145, Visible Light, K22G18.10, Tumor, clefted, Cxxc7, Mutations, nup96, Cbfa2, BSAC, nup98, Nkl, NKL, hnu, K22G18_10, pathogenesis, Whole Transcriptome, Transcriptome Sequencing, Transforming, NUP96, Kinase, nucleoporin, NUP98, Non Polyadenylated, foton, adult, Gata1, RNA Gene Products, AI465270, treatment, Pebp2a2, 98 kDa nucleoporin, GATA-1, Bsac, proportionality to, xgata1, GATA1, Complete Exome Sequencing, nup189C, Whole Transcriptome Sequencing, amlcr1, aml1, XLTT, Epigenomic, XAML, NFE1, TNFSF14, Transforming Genes, trisomy 21, Meiotic Nondisjunction, nup189N, Therapies, Nup98/96, Malignancies, GATA-binding factor 1, ATP Phosphotransferases, ATP, Gata-1, single organism signaling, gamma, Megakaryocytic Leukemias, acute myelogenous, Tumors, Megakaryoblastic Leukemias, Therapy, 47, CBF-alpha-2, Radiation, Nup 98, subdivided, aberrant, Nup 96, ribose nucleic acid, Mll, MLL, UNQ391/PRO726, Aml1, AML1, FLMKL1, HRX, Trisomy 21, Gli5, Exome, ribonucleic acids, Down's Syndrome, ETO2, AMKL, Eto2, ADIR2, Light, Acute Megakaryoblastic Leukemia, ATRPS5A, Cbfa2t3h, CG10198, AI849286, XLTDA, Down's syndrome NOS (disorder), Benign, LIGHT, EVI-1, PEBP2aB, NF-E1, ARABIDOPSIS MINUTE-LIKE 1, Ribonukleinsaeure, Genetic Materials, pentosenucleic acids, Acute Megakaryocytic Leukemias, XLANP, Ribonucleic acids, Adults, evi-1, Genetic Material, eto2, forked, acute myeloblastic leukemia type 7, Visible Radiations, TET1-MLL, Gf-1, Acid, Transphosphorylases, Acute Megakaryocytic, MRTF-A, Nup96, Complete Transcriptome, Visible Radiation, divided, HVEML, Trisomy 21 Syndrome, Nup98, Down's syndrome NOS, Epigenetic, susceptibility to, All1, WDSTS, proportionality, Heterogeneity, Benign Neoplasms, rate, Eryf1, ETO-2, INSDC_feature:gene, Mitotic Nondisjunction, septate, Children, mKIAA4050, Treatments, Malignant Neoplasms, Down, GF-1, Oncogene, light quantum, acute myeloid leukemia (AML), Patient, NUP196, Mrtf-a, Material, megakaryocytic leukaemia, 96 kDa nucleoporin, Megakaryocytic, aml-1, Whole Exome Sequencing, Cistron, nup98-96, Epigenetics, Transcriptome Sequencings, MKL1met, Partial Trisomy 21, XX, XY, atypia, ERYF1, Mrtf-A, G Trisomy, Complete Exome, OTT, Neoplasms, number, Benign Neoplasm, Gene, MLL|GAS7, NF-E1 DNA-binding protein, Acute Megakaryoblastic, Malignant, MLL1A, Ly113, OTT1, acute non lymphoblastic leukaemia, Genetic heterogeneity, Gene Products, Nucleoporin Nup96, Down's, GF1, eryf1, Nucleoporin Nup98, acute myeloid, atypical, Mal, MAL, trisomy 21 syndrome, Phosphotransferase, Down's syndrome - trisomy 21, acute myeloid leukaemia (AML), Runx-1, proportion, WES, Leukemia, Complete, Exome Sequencings, Transforming Gene, Genetic, AMLCR1, Malignancy, Partial Trisomy 21 Down Syndrome, l(3)95BCd, Lichtquant, ALL-1, causes, Transphosphorylase, Visible, pebp2ab, Mongolism, NPHP7, Sequencing, Mll1, MLL1, Non-Polyadenylated RNA, Neoplasias, CG10201, Whole Exome, 6430520K01, Megakaryoblastic Leukemia, Pebpa2b, Down syndrome, Clients, Whole, Syndrome, Myeloid Leukemia, causality, photon, TR2, Nup98-Nup96, gata1a-A, Cancer, leukemia, RNA, data, Megakaryocytic Leukemia, Complete Exome Sequencings, Malignant Neoplasm, M7, Down Syndrome, gata1, MEC18.11, mtgr2, RNS, defective, Complete trisomy 21 syndrome, MLL/GAS7, Cistrons, CD258, Client, Leukemias, Cell, Phosphotransferases, Acute Megakaryocytic Leukemia, Exome Sequencing, MELODY, disease management., MT, Complete trisomy 21 syndrome (disorder), +21, DmelCG10198, yeast nucleic acid, Neoplasm, AI462102, rare (European definition), aml1-evi-1, cbfa2, Klf16, Nup-98, zmynd4, Radiations, aml, MTG16, ribonucleic acid, AML1-EVI-1, MTGR2, Genes, Complete Transcriptome Sequencing, AW229127, 4732457F17, ribosomal protein 5A, Xaml1, Kinases, HVEM-L, A630044F12Rik, CXXC7, Non Polyadenylated RNA, Trisomy G, Photoradiation, Non-Polyadenylated, complete trisomy 21 syndrome, CBFA2, Ribonucleic Acid, Cancers, LTg, megakaryocytic leukemia, SPEN, Nuclear pore complex protein Nup96, Acute, Nuclear pore complex protein Nup98, Photoradiations, signalling process, Therapeutic, xGATA-1, cardinality, acute myeloblastic leukaemia type 7, quotient, TRX1, MEI2-like protein 1, mtg16, Treatment, T21 - Trisomy 21, Neoplasia, Downs SyndromeXX, Megakaryoblastic Leukemias, XY, Trisomy 21 NOS, 47, Acute Megakaryoblastic Leukemias, Megakaryocytic Leukemia, M7, G Trisomy, Myeloid, Trisomy 21, Down Syndrome, Down's Syndrome, Complete trisomy 21 syndrome, Acute Megakaryoblastic Leukemia, Acute Megakaryoblastic, Leukemias, Acute Megakaryocytic Leukemia, Down's syndrome NOS (disorder), Complete trisomy 21 syndrome (disorder), +21, Down's, Acute Megakaryocytic Leukemias, trisomy 21 syndrome, Down's syndrome - trisomy 21, acute myeloblastic leukemia type 7, distinct., Acute Megakaryocytic, Leukemia, Trisomy 21 Syndrome, Partial Trisomy 21 Down Syndrome, Down's syndrome NOS, Trisomy G, complete trisomy 21 syndrome, Mitotic Nondisjunction, Mongolism, megakaryocytic leukemia, Down, trisomy 21, Acute, Meiotic Nondisjunction, Megakaryoblastic Leukemia, Down syndrome, megakaryocytic leukaemia, Syndrome, Megakaryocytic, Myeloid Leukemia, acute myeloblastic leukaemia type 7, T21 - Trisomy 21, Partial Trisomy 21, Downs Syndrome, Megakaryocytic LeukemiasfalsePediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia is Characterized by Distinct Genomic Subsets with Varying OutcomesAcute Megakaryoblastic Leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal megakaryoblasts.  While extremely rare in adults, AMKL accounts for 4-15% of newly diagnosed childhood AML1-3.  A significant proportion of pediatric AMKL cases occur in children with Down syndrome (DS).  These patients have excellent outcomes and are characterized at the genomic level by a founding GATA1 mutation4-6.  In contrast, AMKL in patients without DS (non-DS-AMKL) is frequently associated with poor outcomes.  Previous efforts have identified chimeric oncogenes in a significant number of cases, including RBM15-MKL1, CBFA2T3-GLIS2, KMT2A gene rearrangements and NUP98-KDM5A7-9.  The etiology of 30-40% of cases, however, remains unknown.  To better understand the genomic landscape of non-DS-AMKL, we performed RNA and exome sequencing on specimens from 99 patients (75 pediatric and 24 adult).  We demonstrate that pediatric non-DS-AMKL is a heterogeneous malignancy that can be divided into seven subgroups with varying outcomes.  These subgroups are characterized by chimeric oncogenes with cooperating mutations in epigenetic and kinase signaling genes.  Overall, these data shed light on the etiology of AMKL and provide useful information for treatment tailoring. 2017-07-26 15:39:29EGAS000010021839606EGAD00001003134EGAD00001003135EGAC00001000044