RAS-pathway mutations, causing a proliferative advantage, occur in acute myeloid leukaemia (AML) and MLL-rearranged leukaemia. Recently, mutations in the Casitas B lineage lymphoma (CBL) gene were reported to be involved in RAS-pathway activation in various myeloid malignancies, but their role in paediatric AML is still unknown. We performed mutation analysis of 283 newly diagnosed and 33 relapsed paediatric AML cases. Only two mutant cases (0·7%) were identified in the newly diagnosed paediatric AML samples, of which one was MLL-rearranged. Both mutant cases showed CBL mRNA expression in the range of the non-mutated cases. Phosphorylated extracellular signal-regulated kinase (pERK) was not correlated with CBL protein expression (n = 11). In conclusion, we report a very low CBL mutation frequency in paediatric AML, which, together with the lack of difference in protein and mRNA expression, illustrates the limited role of CBL in paediatric AML.

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doi.org/10.1111/bjh.12068, hdl.handle.net/1765/68887
British Journal of Haematology
Department of Pediatrics

Coenen, E.A, Driessen, E.M.C, Zwaan, C.M, Stary, J, Baruchel, A, de Haas, V, … van den Heuvel-Eibrink, M.M. (2012). CBL mutations do not frequently occur in paediatric acute myeloid leukaemia. British Journal of Haematology, 159(5), 577–584. doi:10.1111/bjh.12068