biostudies-literatureSimonetti GAssociazione Italiana per la Ricerca sul CancroDeutsche ForschungsgemeinschaftSeventh Framework Programme712-725https://www.ebi.ac.uk/biostudies/studies/S-EPMC6587451biostudies-literatureUnknown125(5)<h4>Background</h4>Aneuploidy occurs in more than 20% of acute myeloid leukemia (AML) cases and correlates with an adverse prognosis.<h4>Methods</h4>To understand the molecular bases of aneuploid acute myeloid leukemia (A-AML), this study examined the genomic profile in 42 A-AML cases and 35 euploid acute myeloid leukemia (E-AML) cases.<h4>Results</h4>A-AML was characterized by increased genomic complexity based on exonic variants (an average of 26 somatic mutations per sample vs 15 for E-AML). The integration of exome, copy number, and gene expression data revealed alterations in genes involved in DNA repair (eg, SLX4IP, RINT1, HINT1, and ATR) and the cell cycle (eg, MCM2, MCM4, MCM5, MCM7, MCM8, MCM10, UBE2C, USP37, CK2, CK3, CK4, BUB1B, NUSAP1, and E2F) in A-AML, which was associated wiCancerAneuploid acute myeloid leukemia exhibits a signature of genomic alterations in the cell cycle and protein degradation machinery.PMC6587451AIRC‐IG 15762FP7/2007‐2013Heisenberg‐Professur BU1339/8‐1AIRC‐IG 19226 to Giovanni MartinelliAIRC5x1000 10007 to Stefano A. PileriGA 306242‐NGS‐PTLGuadagnuolo VFontana MCAstolfi ACavo MSazzini MHernandez JMBullinger LSimonetti GManfrini MPadella AFerrari AIacobucci IBernardi SZanotti FFonzi ELaginestra MATestoni NMarconi GBaldazzi CFranchini EPaolini SZuffa ECools JCastellani GVandenberghe Pdo Valle IFHaferlach TRemondini DBruno SMartinelli GPapayannidis CFicarra EOttaviani EfalseAneuploid acute myeloid leukemia exhibits a signature of genomic alterations in the cell cycle and protein degradation machinery.<h4>Background</h4>Aneuploidy occurs in more than 20% of acute myeloid leukemia (AML) cases and correlates with an adverse prognosis.<h4>Methods</h4>To understand the molecular bases of aneuploid acute myeloid leukemia (A-AML), this study examined the genomic profile in 42 A-AML cases and 35 euploid acute myeloid leukemia (E-AML) cases.<h4>Results</h4>A-AML was characterized by increased genomic complexity based on exonic variants (an average of 26 somatic mutations per sample vs 15 for E-AML). The integration of exome, copy number, and gene expression data revealed alterations in genes involved in DNA repair (eg, SLX4IP, RINT1, HINT1, and ATR) and the cell cycle (eg, MCM2, MCM4, MCM5, MCM7, MCM8, MCM10, UBE2C, USP37, CK2, CK3, CK4, BUB1B, NUSAP1, and E2F) in A-AML, which was associated wi2019-01-01T00:00:00Z2019 Mar2026-05-06T23:08:38.542Z2019-07-24T07:25:20ZS-EPMC65874513048076510.1002/cncr.31837