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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F12%3A8128%21RIV13-MZ0-00064203
rdf:type
skos:Concept n16:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1111/bjh.12068
dcterms:description
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. 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.
dcterms:title
CBL mutations do not frequently occur in paediatric acute myeloid leukaemia CBL mutations do not frequently occur in paediatric acute myeloid leukaemia
skos:prefLabel
CBL mutations do not frequently occur in paediatric acute myeloid leukaemia CBL mutations do not frequently occur in paediatric acute myeloid leukaemia
skos:notation
RIV/00064203:_____/12:8128!RIV13-MZ0-00064203
n16:predkladatel
n18:ico%3A00064203
n4:aktivita
n11:I
n4:aktivity
I
n4:cisloPeriodika
5
n4:dodaniDat
n9:2013
n4:domaciTvurceVysledku
n17:4977939
n4:druhVysledku
n13:J
n4:duvernostUdaju
n7:S
n4:entitaPredkladatele
n12:predkladatel
n4:idSjednocenehoVysledku
126159
n4:idVysledku
RIV/00064203:_____/12:8128
n4:jazykVysledku
n14:eng
n4:klicovaSlova
CBL; RAS-pathway; acute myeloid leukaemia; infant acute lymphoblastic leukaemia; MLL-rearrangements; acute lymphoblastic-leukemia; acquired uniparental disomy; c-cbl; myelomonocytic leukemia; oncogenic kras; expression; resistance; cells; model; flt3
n4:klicoveSlovo
n5:resistance n5:acute%20myeloid%20leukaemia n5:acquired%20uniparental%20disomy n5:c-cbl n5:expression n5:oncogenic%20kras n5:model n5:infant%20acute%20lymphoblastic%20leukaemia n5:MLL-rearrangements n5:cells n5:RAS-pathway n5:CBL n5:flt3 n5:acute%20lymphoblastic-leukemia n5:myelomonocytic%20leukemia
n4:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n4:kontrolniKodProRIV
[0C31D335ADF1]
n4:nazevZdroje
British Journal of Haematology
n4:obor
n15:FD
n4:pocetDomacichTvurcuVysledku
1
n4:pocetTvurcuVysledku
15
n4:rokUplatneniVysledku
n9:2012
n4:svazekPeriodika
159
n4:tvurceVysledku
Marschalek, R. Starý, Jan Stam, RW van den Heuvel-Eibrink, MM Baruchel, A. Meyer, C. Reinhardt, D. Pieters, R. Zwaan, CM Coenen, E. A. de Haas, V. Arentsen-Peters, STCJM Kaspers, GJL Driessen, EMC de Bont, ESJM
n4:wos
000310980700013
s:issn
0007-1048
s:numberOfPages
8