Recurrent mutations refine prognosis in chronic lymphocytic leukemia
| Autor: | Kostas Stamatopoulos, Achilles Anagnostopoulos, Karin E. Smedby, Diego Cortese, Neus Villamor, Alba Navarro, C. Belessi, La. Sutton, E. Minga, Larry Mansouri, Gianluca Gaidano, Eugen Tausch, Paolo Ghia, Richard Rosenquist, Veronika Navrkalová, Šárka Pospíšilová, Jana Kminkova, Julio Delgado, Anastasia Hadzidimitriou, Lydia Scarfò, Gunnar Juliusson, Andreas Agathangelidis, Davide Rossi, Jonathan C. Strefford, Zadie Davis, Antonios M. Makris, Matthew J. J. Rose-Zerilli, David Oscier, Stephan Stilgenbauer, Panagiotis Baliakas, Elias Campo, Barbara Kantorová, Marta Larrayoz, Evangelia Stalika |
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| Přispěvatelé: | Baliakas, P., Hadzidimitriou, A., Sutton, L. -A., Rossi, D., Minga, E., Villamor, N., Larrayoz, M., Kminkova, J., Agathangelidis, A., Davis, Z., Tausch, E., Stalika, E., Kantorova, B., Mansouri, L., Scarfo', L., Cortese, D., Navrkalova, V., Rose-Zerilli, M. J. J., Smedby, K. E., Juliusson, G., Anagnostopoulos, A., Makris, A. M., Navarro, A., Delgado, J., Oscier, D., Belessi, C., Stilgenbauer, S., Ghia, P., Pospisilova, S., Gaidano, G., Campo, E., Strefford, J. C., Stamatopoulos, K., Rosenquist, R. |
| Rok vydání: | 2014 |
| Předmět: |
Oncology
Male Cancer Research Time Factors Chronic lymphocytic leukemia DNA Mutational Analysis medicine.disease_cause 0302 clinical medicine Recurrence hemic and lymphatic diseases Receptor Notch1 0303 health sciences Mutation Hematology Middle Aged Prognosis 3. Good health Europe Leukemia 030220 oncology & carcinogenesis Female RNA Splicing Factors IGHV@ medicine.medical_specialty Polymorphism Single Nucleotide 03 medical and health sciences Cytogenetics Internal medicine medicine Humans Clinical significance neoplasms 030304 developmental biology Aged business.industry Ribonucleoprotein U2 Small Nuclear medicine.disease Phosphoproteins Leukemia Lymphocytic Chronic B-Cell Lymphoma Immunology Multivariate Analysis Tumor Suppressor Protein p53 business Trisomy Gene Deletion |
| Zdroj: | Leukemia |
| ISSN: | 0887-6924 |
| DOI: | 10.1038/leu.2014.196 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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