CBL mutations do not frequently occur in paediatric acute myeloid leukaemia

Summary 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 ro...

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Bibliographic Details
Published in:British journal of haematology 2012-12, Vol.159 (5), p.577-584
Main Authors: Coenen, Eva A., Driessen, Emma M. C., Zwaan, C.Michel, Stary, Jan, Baruchel, Andre, de Haas, Valerie, de Bont, Eveline S. J. M., Reinhardt, Dirk, Kaspers, Gertjan J. L., Arentsen-Peters, Susan T. C. J. M., Meyer, Claus, Marschalek, Rolf, Pieters, Rob, Stam, Ronald W., van den Heuvel-Eibrink, Marry M.
Format: Article
Language:English
Subjects:
acute myeloid leukaemia
Adolescent
Biological and medical sciences
CBL
Cbl protein
Child
Child, Preschool
Extracellular signal-regulated kinase
Female
Gene expression
Gene Expression Profiling
Gene Rearrangement
Hematologic and hematopoietic diseases
Humans
Infant
infant acute lymphoblastic leukaemia
Infant, Newborn
Leukemia, Myeloid, Acute - genetics
Leukemia, Myeloid, Acute - metabolism
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Lymphoma
Male
Malignancy
Medical sciences
MLL-rearrangements
Mutation
Pediatrics
Proto-Oncogene Proteins c-cbl - genetics
Proto-Oncogene Proteins c-cbl - metabolism
RAS-pathway
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Summary:Summary 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.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.12068