MYELOID NEOPLASIA Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype
نویسندگان
چکیده
*Vera Grossmann,1 *Enrico Tiacci,2 Antony B. Holmes,3 Alexander Kohlmann,1 Maria Paola Martelli,2 Wolfgang Kern,1 Ariele Spanhol-Rosseto,2 Hans-Ulrich Klein,4 Martin Dugas,4 Sonja Schindela,1 Vladimir Trifonov,3 Susanne Schnittger,1 Claudia Haferlach,1 Renato Bassan,5 Victoria A. Wells,6 Orietta Spinelli,5 Joseph Chan,3 Roberta Rossi,2 Stefano Baldoni,2 Luca De Carolis,2 Katharina Goetze,7 Hubert Serve,8 Rudolf Peceny,9 Karl-Anton Kreuzer,10 Daniel Oruzio,11 Giorgina Specchia,12 Francesco Di Raimondo,13 Francesco Fabbiano,14 Marco Sborgia,15 Arcangelo Liso,16 Laurent Farinelli,17 Alessandro Rambaldi,5 Laura Pasqualucci,2,6 Raul Rabadan,3 Torsten Haferlach,1 and Brunangelo Falini2
منابع مشابه
Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.
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 identi...
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Patients with low-risk myelodysplastic syndromes (MDS) that rapidly progress to acute myeloid leukemia (AML) remain a challenge in disease management. Using whole-exome sequencing of an MDS patient, we identified a somatic mutation in the BCOR gene also mutated in AML. Sequencing of BCOR and related BCORL1 genes in a cohort of 354 MDS patients identified 4.2% and 0.8% of mutations respectively....
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