About: Inactivation of p53 and amplification of MYCN gene in terminal lymphoblastic relapse in chronic lymphotic leukemia patient

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About: Inactivation of p53 and amplification of MYCN gene in terminal lymphoblastic relapse in chronic lymphotic leukemia patient 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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	B-cell chronic lymphocytic leukemia (CLL) is an incurable disease with a highly variable clinical course. A proportion of patients eventually progress to a higher stage of malignancy. A recent association has been observed between the presence of aberrant somatic hypermutations in leukemic cells (hypermutations occurring outside of the immunoglobulin locus) and the transformation to a diffuse large B-cell lymphoma or prolymphocytic leukemia. In this study, we report on the rarely observed blastic transformation in a CLL patient who had previously been shown to harbor aberrant somatic hypermutations in the TP53 tumor-suppressor gene (Mol Immunol 2008;45:1525-29). The enzyme responsible, the activation-induced cytidine deaminase, was still active within the transformation, as evidenced by the ongoing class-switch recombination of cytoplasmic immunoglobulins. B-cell chronic lymphocytic leukemia (CLL) is an incurable disease with a highly variable clinical course. A proportion of patients eventually progress to a higher stage of malignancy. A recent association has been observed between the presence of aberrant somatic hypermutations in leukemic cells (hypermutations occurring outside of the immunoglobulin locus) and the transformation to a diffuse large B-cell lymphoma or prolymphocytic leukemia. In this study, we report on the rarely observed blastic transformation in a CLL patient who had previously been shown to harbor aberrant somatic hypermutations in the TP53 tumor-suppressor gene (Mol Immunol 2008;45:1525-29). The enzyme responsible, the activation-induced cytidine deaminase, was still active within the transformation, as evidenced by the ongoing class-switch recombination of cytoplasmic immunoglobulins. (en)
Title	Inactivation of p53 and amplification of MYCN gene in terminal lymphoblastic relapse in chronic lymphotic leukemia patient Inactivation of p53 and amplification of MYCN gene in terminal lymphoblastic relapse in chronic lymphotic leukemia patient (en)
skos:prefLabel	Inactivation of p53 and amplification of MYCN gene in terminal lymphoblastic relapse in chronic lymphotic leukemia patient Inactivation of p53 and amplification of MYCN gene in terminal lymphoblastic relapse in chronic lymphotic leukemia patient (en)
skos:notation	RIV/65269705:_____/09:#0000819!RIV10-MZ0-65269705
http://linked.open...avai/riv/aktivita	P V Z
http://linked.open...avai/riv/aktivity	P(LC06027), P(NR9293), V, Z(MSM0021622430)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Pospíšilová, Šárka Brychtová, Yvona Doubek, Michael Mayer, Jiří Tichý, Boris Stano Kozubík, Kateřina Šmardová, Jana Malčíková, Jitka Trbušek, Martin Borský, Marek
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 Brno / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	318937
http://linked.open...ai/riv/idVysledku	RIV/65269705:_____/09:#0000819
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CLL transformation; gene amplification; chronic lymphocytic leukemia (en)
http://linked.open.../riv/klicoveSlovo	chronic lymphocytic leukemia gene amplification CLL transformation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[BDA90F33666C]
http://linked.open...i/riv/nazevZdroje	Cancer Genetics and Cytogenetics
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	10 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...vavai/riv/projekt	Application of MicroRNAs and Small Interfering RNAs in Diagnostics and Treatment of Leukemia University Research Centre - Czech Myeloma Group
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	189
http://linked.open...iv/tvurceVysledku	Brychtová, Yvona Doubek, Michael Mayer, Jiří Pospíšilová, Šárka Tichý, Boris Malčíková, Jitka Trbušek, Martin Šmardová, Jana Borský, Marek Staňo Kozubík, Kateřina
http://linked.open...ain/vavai/riv/wos	000263213000009
http://linked.open...n/vavai/riv/zamer	Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies
issn	1873-4456
number of pages	6 (xsd:int)

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