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@article{1216571, author = {Baliakas, P. and Hadzidimitriou, A. and Sutton, LA. and Rossi, D. and Minga, E. and Villamor, N. and Larrayoz, M. and Kmínková, Jana and Agathangelidis, A. and Davis, Z. and Tausch, E. and Stalika, E. and Kantorová, Barbara and Mansouri, L. and Scarfo, L. and Cortese, D. and Navrkalová, Veronika and RoseandZerilli, MJ. and Smedby, K.E. and Juliusson, G. and Anagnostopoulos, A. and Makris, A.M. and Navarro, A. and Delgado, J. and Oscier, D. and Belessi, C. and Stilgenbauer, S. and Ghia, P. and Pospíšilová, Šárka and Gaidano, G. and Campo, E. and Strefford, J.C. and Stamatopoulos, K. and Rosenquist, R.}, article_location = {London}, article_number = {2}, doi = {http://dx.doi.org/10.1038/leu.2014.196}, keywords = {mutations; CLL; ERIC}, language = {eng}, issn = {0887-6924}, journal = {Leukemia}, title = {Recurrent mutations refine prognosis in chronic lymphocytic leukemia.}, url = {http://www.nature.com/leu/journal/vaop/ncurrent/pdf/leu2014196a.pdf}, volume = {29}, year = {2015} }
TY - JOUR ID - 1216571 AU - Baliakas, P. - Hadzidimitriou, A. - Sutton, LA. - Rossi, D. - Minga, E. - Villamor, N. - Larrayoz, M. - Kmínková, Jana - Agathangelidis, A. - Davis, Z. - Tausch, E. - Stalika, E. - Kantorová, Barbara - Mansouri, L. - Scarfo, L. - Cortese, D. - Navrkalová, Veronika - Rose-Zerilli, MJ. - Smedby, K.E. - Juliusson, G. - Anagnostopoulos, A. - Makris, A.M. - Navarro, A. - Delgado, J. - Oscier, D. - Belessi, C. - Stilgenbauer, S. - Ghia, P. - Pospíšilová, Šárka - Gaidano, G. - Campo, E. - Strefford, J.C. - Stamatopoulos, K. - Rosenquist, R. PY - 2015 TI - Recurrent mutations refine prognosis in chronic lymphocytic leukemia. JF - Leukemia VL - 29 IS - 2 SP - 329-336 EP - 329-336 PB - Nature Publishing Group SN - 08876924 KW - mutations KW - CLL KW - ERIC UR - http://www.nature.com/leu/journal/vaop/ncurrent/pdf/leu2014196a.pdf L2 - http://www.nature.com/leu/journal/vaop/ncurrent/pdf/leu2014196a.pdf N2 - Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n 1/4 3334), SF3B1 (n 1/4 2322), TP53 (n 1/4 2309), MYD88 (n 1/4 1080) and BIRC3 (n 1/4 919) genes, mainly at diagnosis (75%) and before treatment (490%). BIRC3 mutations (2.5%) were associated with unmutated IGHV genes (U-CLL), del(11q) and trisomy 12, whereas MYD88 mutations (2.2%) were exclusively found among M-CLL. NOTCH1, SF3B1 and TP53 exhibited variable frequencies and were mostly enriched within clinically aggressive cases. Interestingly, as the timespan between diagnosis and mutational screening increased, so too did the incidence of SF3B1 mutations; no such increase was observed for NOTCH1 mutations. Regarding the clinical impact, NOTCH1 mutations, SF3B1 mutations and TP53 aberrations (deletion/mutation, TP53ab) correlated with shorter time-to-first-treatment (Po0.0001) in 889 treatment-naive Binet stage A cases. In multivariate analysis (n 1/4 774), SF3B1 mutations and TP53ab along with del(11q) and U-CLL, but not NOTCH1 mutations, retained independent significance. Importantly, TP53ab and SF3B1 mutations had an adverse impact even in U-CLL. In conclusion, we support the clinical relevance of novel recurrent mutations in CLL, highlighting the adverse impact of SF3B1 and TP53 mutations, even independent of IGHV mutational status, thus underscoring the need for urgent standardization/harmonization of the detection methods. ER -
BALIAKAS, P., A. HADZIDIMITRIOU, LA. SUTTON, D. ROSSI, E. MINGA, N. VILLAMOR, M. LARRAYOZ, Jana KMÍNKOVÁ, A. AGATHANGELIDIS, Z. DAVIS, E. TAUSCH, E. STALIKA, Barbara KANTOROVÁ, L. MANSOURI, L. SCARFO, D. CORTESE, Veronika NAVRKALOVÁ, MJ. ROSE-ZERILLI, K.E. SMEDBY, G. JULIUSSON, A. ANAGNOSTOPOULOS, A.M. MAKRIS, A. NAVARRO, J. DELGADO, D. OSCIER, C. BELESSI, S. STILGENBAUER, P. GHIA, Šárka POSPÍŠILOVÁ, G. GAIDANO, E. CAMPO, J.C. STREFFORD, K. STAMATOPOULOS a R. ROSENQUIST. Recurrent mutations refine prognosis in chronic lymphocytic leukemia. \textit{Leukemia}. London: Nature Publishing Group, roč.~29, č.~2, s.~329-336. ISSN~0887-6924. doi:10.1038/leu.2014.196. 2015.
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