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ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia

S. Pospisilova, D. Gonzalez, J. Malcikova, M. Trbusek, D. Rossi, AP. Kater, F. Cymbalista, B. Eichhorst, M. Hallek, H. Döhner, P. Hillmen, M. van Oers, J. Gribben, P. Ghia, E. Montserrat, S. Stilgenbauer, T. Zenz

. 2012 ; 26 (7) : 1458-1461.

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články, přehledy

Perzistentní odkaz   https://www.medvik.cz/link/bmc13000962

Grantová podpora
NS9858 MZ0 CEP - Centrální evidence projektů

Digitální knihovna NLK
Plný text - Článek
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E-zdroje NLK Online Plný text

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

Odkazy
PubMed 22297721
DOI 10.1038/leu.2012.25
Knihovny.cz E-zdroje

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 ∼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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