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Recurrent mutations refine prognosis in chronic lymphocytic leukemia
P. Baliakas, A. Hadzidimitriou, LA. Sutton, D. Rossi, E. Minga, N. Villamor, M. Larrayoz, J. Kminkova, A. Agathangelidis, Z. Davis, E. Tausch, E. Stalika, B. Kantorova, L. Mansouri, L. Scarfò, D. Cortese, V. Navrkalova, MJ. Rose-Zerilli, KE....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
NT13493
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
Zdroj
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1997-01-01
Medline Complete (EBSCOhost)
od 1997-01-01 do 2015-11-30
Nursing & Allied Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
PubMed
24943832
DOI
10.1038/leu.2014.196
Knihovny.cz E-zdroje
- MeSH
- časové faktory MeSH
- chronická lymfatická leukemie diagnóza genetika MeSH
- cytogenetika MeSH
- delece genu MeSH
- fosfoproteiny genetika MeSH
- jednonukleotidový polymorfismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- malý jaderný ribonukleoprotein U2 genetika MeSH
- multivariační analýza MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- nádorový supresorový protein p53 genetika MeSH
- prognóza MeSH
- receptor Notch1 genetika MeSH
- recidiva MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and before treatment (>90%). 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 (P<0.0001) in 889 treatment-naive Binet stage A cases. In multivariate analysis (n=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.
Cancer Sciences Faculty of Medicine University of Southampton Southampton UK
Department of Haematology Royal Bournemouth Hospital Bournemouth UK
Department of Internal Medicine 3 Ulm University Ulm Germany
Department of Medicine Solna Clinical Epidemiology Unit Karolinska Institutet Stockholm Sweden
Hematology Department and HCT Unit G Papanicolaou Hospital Thessaloniki Greece
Hematology Department Nikea General Hospital Pireaus Greece
Institute of Applied Biosciences CERTH Thessaloniki Greece
Lund University and Hospital Department of Hematology Lund Stem Cell Center Lund Sweden
Citace poskytuje Crossref.org
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