Refine
Has Fulltext
- yes (10)
Is part of the Bibliography
- yes (10)
Document Type
- Journal article (10)
Language
- English (10)
Keywords
- Biologie (2)
- African-americans (1)
- BCOR (1)
- BCORL1 (1)
- Chronic Kidney-disease (1)
- Crespi effect (1)
- Dark Matter (1)
- Diabetic-nephropathy (1)
- General-population (1)
- Glomerular-filtration-rate (1)
Institute
- Institut für Molekulare Infektionsbiologie (2)
- Institut für Theoretische Physik und Astrophysik (2)
- Neurologische Klinik und Poliklinik (2)
- Deutsches Zentrum für Herzinsuffizienz (DZHI) (1)
- Institut für Klinische Epidemiologie und Biometrie (1)
- Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie (1)
- Medizinische Klinik und Poliklinik I (1)
- Medizinische Klinik und Poliklinik II (1)
- Neurochirurgische Klinik und Poliklinik (1)
- Physiologisches Institut (1)
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.