About: CBL mutations do not frequently occur in paediatric acute myeloid leukaemia

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About: CBL mutations do not frequently occur in paediatric acute myeloid leukaemia Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1111/bjh.12068
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. (en)
Title	CBL mutations do not frequently occur in paediatric acute myeloid leukaemia CBL mutations do not frequently occur in paediatric acute myeloid leukaemia (en)
skos:prefLabel	CBL mutations do not frequently occur in paediatric acute myeloid leukaemia CBL mutations do not frequently occur in paediatric acute myeloid leukaemia (en)
skos:notation	RIV/00064203:_____/12:8128!RIV13-MZ0-00064203
http://linked.open...avai/predkladatel	Fakultní nemocnice v Motole
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Starý, Jan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	126159
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/12:8128
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/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 (en)
http://linked.open.../riv/klicoveSlovo	flt3 acute myeloid leukaemia CBL MLL-rearrangements RAS-pathway acquired uniparental disomy c-cbl infant acute lymphoblastic leukaemia myelomonocytic leukemia oncogenic kras expression model resistance cells acute lymphoblastic-leukemia
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[0C31D335ADF1]
http://linked.open...i/riv/nazevZdroje	British Journal of Haematology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	15 (xsd:int)
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	159
http://linked.open...iv/tvurceVysledku	Arentsen-Peters, STCJM Baruchel, A. Kaspers, GJL Pieters, R. Reinhardt, D. Starý, Jan Zwaan, CM de Bont, ESJM van den Heuvel-Eibrink, MM Marschalek, R. Meyer, C. Coenen, E. A. de Haas, V. Driessen, EMC Stam, RW
http://linked.open...ain/vavai/riv/wos	000310980700013
issn	0007-1048
number of pages	8 (xsd:int)
is http://linked.open...avai/riv/vysledek of	CBL mutations do not frequently occur in paediatric acute myeloid leukaemia

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