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 and R. ROSENQUIST. Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia. London: Nature Publishing Group, 2015, vol. 29, No 2, p. 329-336. ISSN 0887-6924. doi:10.1038/leu.2014.196.
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Basic information
Original name Recurrent mutations refine prognosis in chronic lymphocytic leukemia.
Authors BALIAKAS, P. (752 Sweden), A. HADZIDIMITRIOU (752 Sweden), LA. SUTTON (752 Sweden), D. ROSSI (380 Italy), E. MINGA (300 Greece), N. VILLAMOR (724 Spain), M. LARRAYOZ (826 United Kingdom of Great Britain and Northern Ireland), Jana KMÍNKOVÁ (203 Czech Republic, belonging to the institution), A. AGATHANGELIDIS (380 Italy), Z. DAVIS (826 United Kingdom of Great Britain and Northern Ireland), E. TAUSCH (276 Germany), E. STALIKA (300 Greece), Barbara KANTOROVÁ (203 Czech Republic, belonging to the institution), L. MANSOURI (752 Sweden), L. SCARFO (380 Italy), D. CORTESE (752 Sweden), Veronika NAVRKALOVÁ (203 Czech Republic, belonging to the institution), MJ. ROSE-ZERILLI (826 United Kingdom of Great Britain and Northern Ireland), K.E. SMEDBY (752 Sweden), G. JULIUSSON (752 Sweden), A. ANAGNOSTOPOULOS (300 Greece), A.M. MAKRIS (300 Greece), A. NAVARRO (724 Spain), J. DELGADO (724 Spain), D. OSCIER (826 United Kingdom of Great Britain and Northern Ireland), C. BELESSI (300 Greece), S. STILGENBAUER (276 Germany), P. GHIA (380 Italy), Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution), G. GAIDANO (380 Italy), E. CAMPO (724 Spain), J.C. STREFFORD (826 United Kingdom of Great Britain and Northern Ireland), K. STAMATOPOULOS (300 Greece) and R. ROSENQUIST (752 Sweden).
Edition Leukemia, London, Nature Publishing Group, 2015, 0887-6924.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30200 3.2 Clinical medicine
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 12.104
RIV identification code RIV/00216224:14740/15:00082239
Organization unit Central European Institute of Technology
UT WoS 000349445000009
Keywords in English mutations; CLL; ERIC
Tags podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Martina Prášilová, učo 342282. Changed: 24/9/2015 14:13.
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.
ED1.1.00/02.0068, research and development projectName: CEITEC - central european institute of technology
EE2.3.30.0009, research and development projectName: Zaměstnáním čerstvých absolventů doktorského studia k vědecké excelenci
NT13493, research and development projectName: Molekulární charakterizace B buněčných receptorů a jejich vztah k evoluci genetických změn u chronické lymfocytární leukémie
7E13008, research and development projectName: Next Generation Sequencing Platform for Targeted Personalized Therapy of Leukemia (Acronym: NGS-PTL)
Investor: Ministry of Education, Youth and Sports of the CR
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