| MALČÍKOVÁ, Jitka, Jana ŠMARDOVÁ, Ludmila ROČŇOVÁ, Boris TICHÝ, Petr KUGLÍK, Vladimíra VRANOVÁ, Soňa ČEJKOVÁ, Miluše SVITÁKOVÁ, Hana SKUHROVÁ FRANCOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Martin BREJCHA, Martin KLABUSAY, Jiří MAYER, Šárka POSPÍŠILOVÁ and Martin TRBUŠEK. Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage. Blood. Washington, DC: American Society of Hematology, 2009, vol. 114, No 26, p. 5307-5314. ISSN 0006-4971. Available from: https://dx.doi.org/10.1182/blood-2009-07-234708. |
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@article{865962,
author = {Malčíková, Jitka and Šmardová, Jana and Ročňová, Ludmila and Tichý, Boris and Kuglík, Petr and Vranová, Vladimíra and Čejková, Soňa and Svitáková, Miluše and Skuhrová Francová, Hana and Brychtová, Yvona and Doubek, Michael and Brejcha, Martin and Klabusay, Martin and Mayer, Jiří and Pospíšilová, Šárka and Trbušek, Martin},
article_location = {Washington, DC},
article_number = {26},
doi = {http://dx.doi.org/10.1182/blood-2009-07-234708},
keywords = {CLL; TP53; inactivation; FASAY; FISH},
language = {eng},
issn = {0006-4971},
journal = {Blood},
title = {Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.},
volume = {114},
year = {2009}
}
TY - JOUR
ID - 865962
AU - Malčíková, Jitka - Šmardová, Jana - Ročňová, Ludmila - Tichý, Boris - Kuglík, Petr - Vranová, Vladimíra - Čejková, Soňa - Svitáková, Miluše - Skuhrová Francová, Hana - Brychtová, Yvona - Doubek, Michael - Brejcha, Martin - Klabusay, Martin - Mayer, Jiří - Pospíšilová, Šárka - Trbušek, Martin
PY - 2009
TI - Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.
JF - Blood
VL - 114
IS - 26
SP - 5307-5314
EP - 5307-5314
PB - American Society of Hematology
SN - 00064971
KW - CLL
KW - TP53
KW - inactivation
KW - FASAY
KW - FISH
N2 - Deletion of TP53 gene, under routine assessment by fluorescence in situ hybridization analysis, connects with the worst prognosis in chronic lymphocytic leukemia (CLL). The presence of isolated TP53 mutation (without deletion) is associated with reduced survival in CLL patients. It is unclear how these abnormalities are selected and what their mutual proportion is. We used methodologies with similar sensitivity for the detection of deletions (interphase fluorescence in situ hybridization) and mutations (yeast functional analysis) and analyzed a large consecutive series of 400 CLL patients; a subset of p53-wild-type cases (n = 132) was screened repeatedly during disease course. The most common type of TP53 inactivation, ie, mutation accompanied by deletion of the remaining allele, occurred in 42 patients (10.5%). Among additional defects, the frequency of the isolated TP53 mutation (n = 20; 5%) and the combination of 2 or more mutations on separate alleles (n = 5; 1.3%) greatly exceeded the sole deletion (n = 3; 0.8%). Twelve patients manifested defects during repeated investigation; in all circumstances the defects involved mutation and occurred after therapy. Monoallelic defects had a negative impact on survival and impaired in vitro response to fludarabine. Mutation analysis of the TP53 should be performed before each treatment initiation because novel defects may be selected by previous therapies.
ER -
MALČÍKOVÁ, Jitka, Jana ŠMARDOVÁ, Ludmila ROČŇOVÁ, Boris TICHÝ, Petr KUGLÍK, Vladimíra VRANOVÁ, Soňa ČEJKOVÁ, Miluše SVITÁKOVÁ, Hana SKUHROVÁ FRANCOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Martin BREJCHA, Martin KLABUSAY, Jiří MAYER, Šárka POSPÍŠILOVÁ and Martin TRBUŠEK. Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage. \textit{Blood}. Washington, DC: American Society of Hematology, 2009, vol.~114, No~26, p.~5307-5314. ISSN~0006-4971. Available from: https://dx.doi.org/10.1182/blood-2009-07-234708.
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