CareLit · DOI-Nachweis · Klinische Pädiatrie
The Association of Mutations in RUNX1 and CSF3R with the Development of Leukemia in Severe Congenital Neutropenia: A unique pathway in leukemogenesis
DOI 10.1055/s-0033-1343625
Bibliografische Angaben
Nachweis in CareLit
Autor:innenJ Skokowa, D Steinemann, C Zeidler, V Makaryan, R Beekman, M Klimiankou, M Ünalan, S Kandabarau, S Schnittger, A Kohlmann, MG Valkhof, R Hoogenboezem, G Göhring, B Schlegelberger, M Stanulla, P Vandenberghe, J Donadieu, IP Touw, DC Dale, K Welte
ZeitschriftKlinische Pädiatrie
Ausgabe05/2013
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Severe congenital neutropenia (CN) is a rare inherited disorder of hematopoiesis with a approx. 20% risk to evolve to acute myeloid leukemia. We investigated the patterns of acquisition of leukemia-associated-mutations in 31 CN patients developing leukemia using DNA deep sequencing. We found that 20 of the 31 patients (64.5%) demonstrated mutations within RUNX1. Of the 20 patients with RUNX1 mutations, 19 harboured…
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Zitierempfehlung
J Skokowa, D Steinemann, C Zeidler, V Makaryan, R Beekman, M Klimiankou, M Ünalan, S Kandabarau, S Schnittger, A Kohlmann, MG Valkhof, R Hoogenboezem, G Göhring, B Schlegelberger, M Stanulla, P Vandenberghe, J Donadieu, IP Touw, DC Dale, K Welte (2013) The Association of Mutations in RUNX1 and CSF3R with the Development of Leukemia in Severe Congenital Neutropenia: A unique pathway in leukemogenesis. Klinische Pädiatrie (05). https://doi.org/10.1055/s-0033-1343625
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