CBL mutations do not frequently occur in paediatric acute myeloid leukaemia

Eva A. Coenen, Emma M.C. Driessen, C. Michel Zwaan, Jan Stary, Andre Baruchel, Valerie de Haas, Eveline S.J.M. de Bont, Dirk Reinhardt, Gertjan J.L. Kaspers, Susan T.C.J.M. Arentsen-Peters, Claus Meyer, Rolf Marschalek, Rob Pieters, Ronald W. Stam, Marry M. van den Heuvel-Eibrink

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

6 Citaten (Scopus)


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.

Originele taal-2Engels
Pagina's (van-tot)577-584
Aantal pagina's8
TijdschriftBritish Journal of Haematology
Nummer van het tijdschrift5
StatusGepubliceerd - dec. 2012
Extern gepubliceerdJa


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