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Ritter, Malte Klimiankou, Maksim Klimenkova, Olga Schambach, Axel Hoffmann, Dirk Schmidt, Amy Kanz, Lothar Link, Daniel C Welte, Karl Skokowa, Julia
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Published in
Annals of hematology
Patients with the pre-leukemia bone marrow failure syndrome called severe congenital neutropenia (CN) have an approximately 15% risk of developing acute myeloid leukemia (AML; called here CN/AML). Most CN/AML patients co-acquire CSF3R and RUNX1 mutations, which play cooperative roles in the development of AML. To establish an in vitro model of leuk...
Klimiankou, Maksim Uenalan, Murat Kandabarau, Siarhei Nustede, Rainer Steiert, Ingeborg Mellor-Heineke, Sabine Zeidler, Cornelia Skokowa, Julia Welte, Karl
Published in
Frontiers in immunology
High frequency of acquired CSF3R (colony stimulating factor 3 receptor, granulocyte) mutations has been described in patients with severe congenital neutropenia (CN) at pre-leukemia stage and overt acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Here, we report the establishment of an ultra-sensitive deep sequencing of a CSF3R segme...
