ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia
| Autor: | David Gonzalez, John G. Gribben, Emili Montserrat, Jitka Malčíková, Stephan Stilgenbauer, Hartmut Döhner, Davide Rossi, Arnon P. Kater, Šárka Pospíšilová, Thorsten Zenz, Florence Cymbalista, Paolo Ghia, Michael Hallek, M. H. J. Van Oers, Barbara Eichhorst, Peter Hillmen, Martin Trbušek |
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| Přispěvatelé: | Pospisilova, S, Gonzalez, D, Malcikova, J, Trbusek, M, Rossi, D, Kater, Ap, Cymbalista, F, Eichhorst, B, Hallek, M, Döhner, H, Hillmen, P, van Oers, M, Gribben, J, Ghia, PAOLO PROSPERO, Montserrat, E, Stilgenbauer, S, Zenz, T. |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Oncology
Cancer Research medicine.medical_specialty Chronic lymphocytic leukemia Disease Internal medicine medicine Humans neoplasms business.industry Standard treatment Hematology Prognosis medicine.disease Leukemia Lymphocytic Chronic B-Cell Transplantation Clinical trial Leukemia Mutation Practice Guidelines as Topic Mutation (genetic algorithm) Immunology Alemtuzumab Tumor Suppressor Protein p53 business Chromosomes Human Pair 17 medicine.drug |
| Zdroj: | Leukemia. 26(7):1458-1461 |
| ISSN: | 0887-6924 |
| DOI: | 10.1038/leu.2012.25 |
| Popis: | Recent evidence suggests that - in addition to 17p deletion - TP53 mutation is an independent prognostic factor in chronic lymphocytic leukemia (CLL). Data from retrospective analyses and prospective clinical trials show that similar to 5% of untreated CLL patients with treatment indication have a TP53 mutation in the absence of 17p deletion. These patients have a poor response and reduced progression-free survival and overall survival with standard treatment approaches. These data suggest that TP53 mutation testing warrants integration into current diagnostic work up of patients with CLL. There are a number of assays to detect TP53 mutations, which have respective advantages and shortcomings. Direct Sanger sequencing of exons 4 - 9 can be recommended as a suitable test to identify TP53 mutations for centers with limited experience with alternative screening methods. Recommendations are provided on standard operating procedures, quality control, reporting and interpretation. Patients with treatment indications should be investigated for TP53 mutations in addition to the work-up recommended by the International workshop on CLL guidelines. Patients with TP53 mutation may be considered for allogeneic stem cell transplantation in first remission. Alemtuzumab-based regimens can yield a substantial proportion of complete responses, although of short duration. Ideally, patients should be treated within clinical trials exploring new therapeutic agents. |
| Databáze: | OpenAIRE |
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