TY - JOUR
T1 - CBL mutations do not frequently occur in paediatric acute myeloid leukaemia
AU - Coenen, Eva A.
AU - Driessen, Emma M.C.
AU - Zwaan, C. Michel
AU - Stary, Jan
AU - Baruchel, Andre
AU - de Haas, Valerie
AU - de Bont, Eveline S.J.M.
AU - Reinhardt, Dirk
AU - Kaspers, Gertjan J.L.
AU - Arentsen-Peters, Susan T.C.J.M.
AU - Meyer, Claus
AU - Marschalek, Rolf
AU - Pieters, Rob
AU - Stam, Ronald W.
AU - van den Heuvel-Eibrink, Marry M.
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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.
KW - Acute myeloid leukaemia
KW - CBL
KW - Infant acute lymphoblastic leukaemia
KW - MLL-rearrangements
KW - RAS-pathway
UR - http://www.scopus.com/inward/record.url?scp=84869093411&partnerID=8YFLogxK
U2 - 10.1111/bjh.12068
DO - 10.1111/bjh.12068
M3 - Article
C2 - 23025505
AN - SCOPUS:84869093411
SN - 0007-1048
VL - 159
SP - 577
EP - 584
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 5
ER -