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. USA Washington, 2009, 114/2009, No 26, p. 5307-5314. ISSN 0006-4971. |
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@article{863764, 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 = {USA Washington}, article_number = {26}, keywords = {chronic lymphocytic leukemia; prognostic marker; TP53; mutation; deletion}, 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 = {114/2009}, year = {2009} }
TY - JOUR ID - 863764 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 - 114/2009 IS - 26 SP - 5307-5314 EP - 5307-5314 SN - 00064971 KW - chronic lymphocytic leukemia KW - prognostic marker KW - TP53 KW - mutation KW - deletion 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}. USA Washington, 2009, 114/2009, No~26, p.~5307-5314. ISSN~0006-4971.
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