Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.

  title={Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.},
  author={Vera Grossmann and Enrico Tiacci and Antony B. Holmes and Alexander Kohlmann and Maria Paola Martelli and Wolfgang Kern and Ariele Spanhol-Rosseto and Hans-Ulrich Klein and Martin Dugas and Sonja Schindela and Vladimir Trifonov and Susanne Schnittger and Claudia Haferlach and Renato Bassan and Victoria A. Wells and Orietta Spinelli and Joseph Chan and Roberta Elisa Rossi and Stefano Baldoni and Luca De Carolis and Katharina S G{\"o}tze and Hubert Serve and Rudolf Peceny and K S Kreuzer and Daniel V. Oruzio and Giorgina Specchia and Francesco Di Raimondo and Francesco Fabbiano and Marco Sborgia and Arcangelo Liso and Laurent Farinelli and Alessandro Rambaldi and Laura Pasqualucci and Raul Rabadan and Torsten Haferlach and Brunangelo Falini},
  volume={118 23},
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… CONTINUE READING
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