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@article{1138694,
author = {Strefford, JC. and Sutton, LA. and Baliakas, P. and Agathangelidis, A. and Malčíková, Jitka and Plevová, Karla and Scarfo, L. and Davis, Z. and Stalika, E. and Cortese, D. and Cahill, N. and Pedersen, LB. and di Celle, PF. and Tzenou, T. and Geisler, C. and Panagiotidis, P. and Langerak, AW. and Chiorazzi, N. and Pospíšilová, Šárka and Oscier, D. and Davi, F. and Belessi, C. and Mansouri, L. and Ghia, P. and Stamatopoulos, K. and Rosenquist, R.},
article_location = {London},
article_number = {11},
doi = {http://dx.doi.org/10.1038/leu.2013.98},
keywords = {chronic lymphocytic leukemia; immunoglobulin genes; stereotyped B-cell receptors; NOTCH1 mutations; SF3B1 mutations},
language = {eng},
issn = {0887-6924},
journal = {Leukemia},
title = {Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2.},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23558524},
volume = {27},
year = {2013}
}
TY - JOUR
ID - 1138694
AU - Strefford, JC. - Sutton, LA. - Baliakas, P. - Agathangelidis, A. - Malčíková, Jitka - Plevová, Karla - Scarfo, L. - Davis, Z. - Stalika, E. - Cortese, D. - Cahill, N. - Pedersen, LB. - di Celle, PF. - Tzenou, T. - Geisler, C. - Panagiotidis, P. - Langerak, AW. - Chiorazzi, N. - Pospíšilová, Šárka - Oscier, D. - Davi, F. - Belessi, C. - Mansouri, L. - Ghia, P. - Stamatopoulos, K. - Rosenquist, R.
PY - 2013
TI - Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2.
JF - Leukemia
VL - 27
IS - 11
SP - 2196-2199
EP - 2196-2199
PB - Nature Publishing Group
SN - 08876924
KW - chronic lymphocytic leukemia
KW - immunoglobulin genes
KW - stereotyped B-cell receptors
KW - NOTCH1 mutations
KW - SF3B1 mutations
UR - http://www.ncbi.nlm.nih.gov/pubmed/23558524
L2 - http://www.ncbi.nlm.nih.gov/pubmed/23558524
N2 - 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. The apparent non-random association of certain mutations with stereotyped CLL subsets alludes to subset-biased acquisition of genomic aberrations, perhaps consistent with particular antigen/antibody interactions. These novel findings assist in unraveling specific mechanisms underlying clinical aggressiveness in poor-prognostic stereotyped subsets, with far-reaching implications for understanding their clonal evolution and implementing biologically oriented therapy.
ER -
STREFFORD, JC., LA. SUTTON, P. BALIAKAS, A. AGATHANGELIDIS, Jitka MALČÍKOVÁ, Karla PLEVOVÁ, L. SCARFO, Z. DAVIS, E. STALIKA, D. CORTESE, N. CAHILL, LB. PEDERSEN, PF. DI CELLE, T. TZENOU, C. GEISLER, P. PANAGIOTIDIS, AW. LANGERAK, N. CHIORAZZI, Šárka POSPÍŠILOVÁ, D. OSCIER, F. DAVI, C. BELESSI, L. MANSOURI, P. GHIA, K. STAMATOPOULOS a R. ROSENQUIST. Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset \#{}2. \textit{Leukemia}. London: Nature Publishing Group, 2013, roč.~27, č.~11, s.~2196-2199. ISSN~0887-6924. doi:10.1038/leu.2013.98.
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