{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(1)"],"submitter":["Eckardt JN"],"pubmed_abstract":["Functional perturbations of the cohesin complex with subsequent changes in chromatin structure and replication are reported in a multitude of cancers including acute myeloid leukemia (AML). Mutations of its STAG2 subunit may predict unfavorable risk as recognized by the 2022 European Leukemia Net recommendations, but the underlying evidence is limited by small sample sizes and conflicting observations regarding clinical outcomes, as well as scarce information on other cohesion complex subunits. We retrospectively analyzed data from a multi-center cohort of 1615 intensively treated AML patients and identified distinct co-mutational patters for mutations of STAG2, which were associated with normal karyotypes (NK) and concomitant mutations in IDH2, RUNX1, BCOR, ASXL1, and SRSF2. Mutated RAD21"],"journal":["Blood cancer journal"],"pagination":["18"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9873811"],"repository":["biostudies-literature"],"pubmed_title":["Alterations of cohesin complex genes in acute myeloid leukemia: differential co-mutations, clinical presentation and impact on outcome."],"pmcid":["PMC9873811"],"pubmed_authors":["Thiede C","Mayer J","Crysandt M","Burchert A","Brummendorf TH","Hanel M","Baldus CD","Berdel WE","Siepmann T","Muller-Tidow C","Cerqueira T","Schafer-Eckart K","Sauer T","Platzbecker U","Einsele H","Naumann R","Steffen B","Kaiser U","Stasik S","Schetelig J","Kaufmann M","Serve H","Eckardt JN","Herbst R","Bornhauser M","Kunzmann V","Krause SW","Hochhaus A","Kroschinsky F","Neubauer A","Racil Z","Middeke JM","Hanoun M","Schaich M","Scholl S","Rollig C","Schliemann C"],"additional_accession":[]},"is_claimable":false,"name":"Alterations of cohesin complex genes in acute myeloid leukemia: differential co-mutations, clinical presentation and impact on outcome.","description":"Functional perturbations of the cohesin complex with subsequent changes in chromatin structure and replication are reported in a multitude of cancers including acute myeloid leukemia (AML). Mutations of its STAG2 subunit may predict unfavorable risk as recognized by the 2022 European Leukemia Net recommendations, but the underlying evidence is limited by small sample sizes and conflicting observations regarding clinical outcomes, as well as scarce information on other cohesion complex subunits. We retrospectively analyzed data from a multi-center cohort of 1615 intensively treated AML patients and identified distinct co-mutational patters for mutations of STAG2, which were associated with normal karyotypes (NK) and concomitant mutations in IDH2, RUNX1, BCOR, ASXL1, and SRSF2. Mutated RAD21","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-25T22:38:08.909Z","creation":"2025-04-06T09:03:34.972Z"},"accession":"S-EPMC9873811","cross_references":{"pubmed":["36693840"],"doi":["10.1038/s41408-023-00790-1"]}}