POSPÍŠILOVÁ, Šárka, D. GONZALEZ, Jitka MALČÍKOVÁ, Martin TRBUŠEK, D. ROSSI, A.P. KATER, F. CYMBALISTA, B. EICHHORST, M. HALLEK, H. DOEHNER, P. HILLMEN, M. VAN OERS, J. GRIBBEN, P. GHIA, E. MONTSERRAT, S. STILGENBAUER and T. ZENZ. ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia. Leukemia. LONDON: NATURE PUBLISHING GROUP, 2012, vol. 26, No 7, p. 1458-1461. ISSN 0887-6924. doi:10.1038/leu.2012.25.
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Basic information
Original name ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia
Authors POSPÍŠILOVÁ, Šárka (203 Czech Republic, guarantor, belonging to the institution), D. GONZALEZ (826 United Kingdom of Great Britain and Northern Ireland), Jitka MALČÍKOVÁ (203 Czech Republic, belonging to the institution), Martin TRBUŠEK (203 Czech Republic, belonging to the institution), D. ROSSI (380 Italy), A.P. KATER (528 Netherlands), F. CYMBALISTA (250 France), B. EICHHORST (276 Germany), M. HALLEK (276 Germany), H. DOEHNER (276 Germany), P. HILLMEN (276 Germany), M. VAN OERS (528 Netherlands), J. GRIBBEN (826 United Kingdom of Great Britain and Northern Ireland), P. GHIA (380 Italy), E. MONTSERRAT (724 Spain), S. STILGENBAUER (276 Germany) and T. ZENZ (276 Germany).
Edition Leukemia, LONDON, NATURE PUBLISHING GROUP, 2012, 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
WWW URL
Impact factor Impact factor: 10.164
RIV identification code RIV/00216224:14740/12:00060752
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1038/leu.2012.25
UT WoS 000306307600003
Keywords in English TP53; CLL; mutation
Tags ok, rivok
Tags International impact
Changed by Changed by: Olga Křížová, učo 56639. Changed: 10. 4. 2013 13:37.
Abstract
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.
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