Coenen EA, Driessen EM, Zwaan CM, Stary J, Baruchel A, de Haas V, de Bont ES, Reinhardt D, Kaspers GJ, Arentsen-Peters ST, Meyer C, Marschalek R, Pieters R, Stam RW, van den Heuvel-Eibrink MM. Br J Haematol. 2012 Dec;159(5):577–84. doi: 10.1111/bjh.12068. Epub 2012 Oct 1. IF: 4.941
Department of Paediatric Haematology and Oncology
Abstract
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.
-Michaela Kotrová-
