Loss-of-Function Mutations of BCOR Are an Independent Marker of Adverse Outcomes in Intensively Treated Patients with Acute Myeloid Leukemia
Status PubMed-not-MEDLINE Language English Country Switzerland Media electronic
Document type Journal Article
PubMed
33926021
PubMed Central
PMC8123716
DOI
10.3390/cancers13092095
PII: cancers13092095
Knihovny.cz E-resources
- Keywords
- BCOR, BCORL1, acute myeloid leukemia, loss-of-function, risk stratification, survival,
- Publication type
- Journal Article MeSH
Acute myeloid leukemia (AML) is characterized by recurrent genetic events. The BCL6 corepressor (BCOR) and its homolog, the BCL6 corepressor-like 1 (BCORL1), have been reported to be rare but recurrent mutations in AML. Previously, smaller studies have reported conflicting results regarding impacts on outcomes. Here, we retrospectively analyzed a large cohort of 1529 patients with newly diagnosed and intensively treated AML. BCOR and BCORL1 mutations were found in 71 (4.6%) and 53 patients (3.5%), respectively. Frequently co-mutated genes were DNTM3A, TET2 and RUNX1. Mutated BCORL1 and loss-of-function mutations of BCOR were significantly more common in the ELN2017 intermediate-risk group. Patients harboring loss-of-function mutations of BCOR had a significantly reduced median event-free survival (HR = 1.464 (95%-Confidence Interval (CI): 1.005-2.134), p = 0.047), relapse-free survival (HR = 1.904 (95%-CI: 1.163-3.117), p = 0.01), and trend for reduced overall survival (HR = 1.495 (95%-CI: 0.990-2.258), p = 0.056) in multivariable analysis. Our study establishes a novel role for loss-of-function mutations of BCOR regarding risk stratification in AML, which may influence treatment allocation.
DKMS Clinical Trials Unit 01309 Dresden Germany
Hämatologie und Onkologie Charité Universitätsmedizin 10117 Berlin Germany
Innere Medizin 3 HSK Wiesbaden 65199 Wiesbaden Germany
Klinik für Hämatologie Onkologie Immunologie Philipps Universität 35043 Marburg Germany
Klinik für Hämatologie Universitätsklinikum Essen 45147 Essen Germany
Klinik für Innere Medizin 2 Universitätsklinikum Jena 07740 Jena Germany
Klinik für Innere Medizin 5 Klinikum Nürnberg Nord 90419 Nürnberg Germany
Medizinische Klinik 2 St Bernward Krankenhaus 31134 Hildesheim Germany
Medizinische Klinik 2 Universitätsklinikum Frankfurt 60590 Frankfurt am Main Germany
Medizinische Klinik 3 Klinikum Chemnitz 09116 Chemnitz Germany
Medizinische Klinik 3 St Marien Krankenhaus Siegen 57072 Siegen Germany
Medizinische Klinik 5 Universitätsklinikum Erlangen 91054 Erlangen Germany
Medizinische Klinik A Universitätsklinikum Münster 48149 Münster Germany
Medizinische Klinik und Poliklinik 1 Universitätsklinikum Carl Gustav Carus 01307 Dresden Germany
Medizinische Klinik und Poliklinik 2 Universitätsklinikum Würzburg 97080 Würzburg Germany
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