Article
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Blood - 3 Apr 2014
Skokowa Julia, Steinemann Doris, Katsman-Kuipers Jenny E, Zeidler Cornelia, Klimenkova Olga, Klimiankou Maksim, Unalan Murat, Kandabarau Siarhei, Makaryan Vahagn, Beekman Renee, Behrens Kira, Stocking Carol, Obenauer Julia, Schnittger Susanne, Kohlmann Alexander, Valkhof Marijke G, Hoogenboezem Remco, Göhring Gudrun, Reinhardt Dirk, Schlegelberger Brigitte, Stanulla Martin, Vandenberghe Peter, Donadieu Jean, Zwaan C Michel, Touw Ivo P, van den Heuvel-Eibrink Marry M, Dale David C, Welte Karl
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.