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Grossmann, Vera; Tiacci, Enrico; Holmes, Antony B.; Kohlmann, Alexander; Martelli, Maria Paola; Kern, Wolfgang; Spanhol-Rosseto, Ariele; Klein, Hans-Ulrich; Dugas, Martin; Schindela, Sonja; Trifonov, Vladimir; Schnittger, Susanne; Haferlach, Claudia; Bassan, Renato; Wells, Victoria A.; Spinelli, Orietta; Chan, Joseph; Rossi, Roberta; Baldoni, Stefano; De Carolis, Luca; Goetze, Katharina; Serve, Hubert; Peceny, Rudolf; Kreuzer, Karl-Anton; Oruzio, Daniel; Specchia, Giorgina; Di Raimondo, Francesco; Fabbiano, Francesco; Sborgia, Marco; Liso, Arcangelo; Farinelli, Laurent; Rambaldi, Alessandro; Pasqualucci, Laura; Rabadan, Raul; Haferlach, Torsten; Falini, Brunangelo
Blood, 12/2011, Volume: 118, Issue: 23Journal Article
Among acute myeloid leukemia (AML) patients with a normal karyotype (CN-AML), NPM1 and CEBPA mutations define World Health Organization 2008 provisional entities accounting for approximately 60% of patients, but the remaining 40% are molecularly poorly characterized. Using whole-exome sequencing of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3-ITD, IDH1, and MLL-PTD, we newly identified a clonal somatic mutation in BCOR (BCL6 corepressor), a gene located on chromosome Xp11.4. Further analyses of 553 AML patients showed that BCOR mutations occurred in 3.8% of unselected CN-AML patients and represented a substantial fraction (17.1%) of CN-AML patients showing the same genotype as the AML index patient subjected to whole-exome sequencing. BCOR somatic mutations were: (1) disruptive events similar to the germline BCOR mutations causing the oculo-facio-cardio-dental genetic syndrome; (2) associated with decreased BCOR mRNA levels, absence of full-length BCOR, and absent or low expression of a truncated BCOR protein; (3) virtually mutually exclusive with NPM1 mutations; and (4) frequently associated with DNMT3A mutations, suggesting cooperativity among these genetic alterations. Finally, BCOR mutations tended to be associated with an inferior outcome in a cohort of 422 CN-AML patients (25.6% vs 56.7% overall survival at 2 years; P = .032). Our results for the first time implicate BCOR in CN-AML pathogenesis.
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