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

@article{Skokowa2014CooperativityOR,
  title={Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.},
  author={Julia Skokowa and Doris Steinemann and Jenny E. Katsman-Kuipers and Cornelia Zeidler and Olga Klimenkova and Maksim Klimiankou and Murat Unalan and Siarhei Kandabarau and Vahagn Makaryan and Ren{\'e}e Beekman and Kira Behrens and Carol Stocking and Julia C Obenauer and Susanne Schnittger and Alexander Kohlmann and Marijke G Valkhof and Remco Hoogenboezem and Gudrun G{\"o}hring and Dirk Reinhardt and Brigitte Schlegelberger and Martin Stanulla and Peter Vandenberghe and Jean Donadieu and Christian Michel Zwaan and Ivo P. Touw and Marry M van den Heuvel-Eibrink and David C Dale and Karl Welte},
  journal={Blood},
  year={2014},
  volume={123 14},
  pages={2229-37}
}
Severe congenital neutropenia (CN) is a preleukemic bone marrow failure syndrome with a 20% risk of evolving into leukemia or myelodysplastic syndrome (MDS). Patterns of acquisition of leukemia-associated mutations were investigated using next-generation deep-sequencing in 31 CN patients who developed leukemia or MDS. Twenty (64.5%) of the 31 patients had mutations in RUNX1. A majority of patients with RUNX1 mutations (80.5%) also had acquired CSF3R mutations. In contrast to their high… CONTINUE READING