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Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis

2014; Elsevier BV; Volume: 123; Issue: 14 Linguagem: Inglês

10.1182/blood-2013-11-538025

1528-0020

Julia Skokowa, Doris Steinemann, Jenny E. Katsman-Kuipers, Cornelia Zeidler, Olga Klimenkova, Maksim Klimiankou, Murat Ünalan, Siarhei Kandabarau, Vahagn Makaryan, Renée Beekman, Kira Behrens, Carol Stocking, Julia C. Obenauer, Susanne Schnittger, Alexander Kohlmann, Marijke Valkhof, Remco M. Hoogenboezem, Gudrun Göhring, Dirk Reinhardt, Brigitte Schlegelberger, Martin Stanulla, Peter Vandenberghe, Jean Donadieu, C. Michel Zwaan, Ivo P. Touw, Marry M. van den Heuvel‐Eibrink, David C. Dale, Karl Welte,

Hematological disorders and diagnostics

Key Points CN/AML patients have a high frequency of CSF3R and RUNX1 mutations. CSF3R and RUNX1 mutations induce elevated proliferation of CD34+ cells.