About: Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2.

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About: Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.ncbi.nlm.nih.gov/pubmed/23558524
Description	Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset #1, #2 and #8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset #2 (44%) versus subset #1 and #8 (4.6% and 0%, respectively; P<0.001). In contrast, the frequency of NOTCH1 mutations in subset #2 was only 8%, lower than the frequency observed in either subset #1 or #8 (19% and 14%, respectively; P=0.04 for subset #1 versus #2). No associations were found for BIRC3 mutations that overall were rare. Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset #1, #2 and #8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset #2 (44%) versus subset #1 and #8 (4.6% and 0%, respectively; P<0.001). In contrast, the frequency of NOTCH1 mutations in subset #2 was only 8%, lower than the frequency observed in either subset #1 or #8 (19% and 14%, respectively; P=0.04 for subset #1 versus #2). No associations were found for BIRC3 mutations that overall were rare. (en)
Title	Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. (en)
skos:prefLabel	Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. (en)
skos:notation	RIV/00216224:14740/13:00065650!RIV14-MZ0-14740___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(ED1.1.00/02.0068), P(EE2.3.20.0045), P(NT13493)
http://linked.open...iv/cisloPeriodika	11
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Pospíšilová, Šárka Malčíková, Jitka Plevová, Karla
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	Masarykova univerzita / Středoevropský technologický institut
http://linked.open...dnocenehoVysledku	69949
http://linked.open...ai/riv/idVysledku	RIV/00216224:14740/13:00065650
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	chronic lymphocytic leukemia; immunoglobulin genes; stereotyped B-cell receptors; NOTCH1 mutations; SF3B1 mutations (en)
http://linked.open.../riv/klicoveSlovo	chronic lymphocytic leukemia NOTCH1 mutations SF3B1 mutations immunoglobulin genes stereotyped B-cell receptors
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[22A068E2C999]
http://linked.open...i/riv/nazevZdroje	Leukemia
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	26 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular Characterization of B-cell Receptors and Their Relationship to Evolution of Gemonic Aberrations in Chronic Lymphocytic Leukemia Central european institute of technology Support of Professional Growth and International Integration of Research Teams in the Filed of Molecular Medicine
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Pospíšilová, Šárka Malčíková, Jitka Plevová, Karla Ghia, P. Langerak, A. W. Baliakas, P. Belessi, C. Davis, Z. Oscier, D. Stalika, E. Stamatopoulos, K. Agathangelidis, A. Davi, F. Rosenquist, R. Sutton, L. A. Cahill, N. Chiorazzi, N. Cortese, D. Geisler, C. Mansouri, L. Panagiotidis, P. Pedersen, LB. Scarfo, L. Strefford, J. C. Tzenou, T. di Celle, P. F.
http://linked.open...ain/vavai/riv/wos	000326882500010
issn	0887-6924
number of pages	4 (xsd:int)
http://bibframe.org/vocab/doi	10.1038/leu.2013.98
http://localhost/t...ganizacniJednotka	14740

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