TY  - JOUR
AU  - Jahn, Nikolaus
AU  - Terzer, Tobias
AU  - Sträng, Eric
AU  - Dolnik, Anna
AU  - Cocciardi, Sibylle
AU  - Panina, Ekaterina
AU  - Corbacioglu, Andrea
AU  - Herzig, Julia
AU  - Weber, Daniela
AU  - Schrade, Anika
AU  - Götze, Katharina
AU  - Schröder, Thomas
AU  - Lübbert, Michael
AU  - Wellnitz, Dominique
AU  - Koller, Elisabeth
AU  - Schlenk, Richard F
AU  - Gaidzik, Verena I
AU  - Paschka, Peter
AU  - Rücker, Frank G
AU  - Heuser, Michael
AU  - Thol, Felicitas
AU  - Ganser, Arnold
AU  - Benner, Axel
AU  - Döhner, Hartmut
AU  - Bullinger, Lars
AU  - Döhner, Konstanze
TI  - Genomic heterogeneity in core-binding factor acute myeloid leukemia and its clinical implication.
JO  - Blood advances
VL  - 4
IS  - 24
SN  - 2473-9537
CY  - Washington, DC
PB  - American Society of Hematology
M1  - DKFZ-2020-03025
SP  - 6342 - 6352
PY  - 2020
AB  - Core-binding factor (CBF) acute myeloid leukemia (AML) encompasses AML with inv(16)(p13.1q22) and AML with t(8;21)(q22;q22.1). Despite sharing a common pathogenic mechanism involving rearrangements of the CBF transcriptional complex, there is growing evidence for considerable genotypic heterogeneity. We comprehensively characterized the mutational landscape of 350 adult CBF-AML [inv(16): n = 160, t(8;21): n = 190] performing targeted sequencing of 230 myeloid cancer-associated genes. Apart from common mutations in signaling genes, mainly NRAS, KIT, and FLT3, both CBF-AML entities demonstrated a remarkably diverse pattern with respect to the underlying cooperating molecular events, in particular in genes encoding for epigenetic modifiers and the cohesin complex. In addition, recurrent mutations in novel collaborating candidate genes such as SRCAP (5
LB  - PUB:(DE-HGF)16
C6  - pmid:33351131
DO  - DOI:10.1182/bloodadvances.2020002673
UR  - https://inrepo02.dkfz.de/record/166582
ER  -