| MALČÍKOVÁ, Jitka, Jana ŠMARDOVÁ, Soňa PEKOVÁ, Soňa ČEJKOVÁ, Jana KOTAŠKOVÁ, Boris TICHÝ, Hana FRANCOVÁ, Michael DOUBEK, Yvona BRYCHTOVÁ, Daniel JANEK, Šárka POSPÍŠILOVÁ, Jiří MAYER, Dana DVOŘÁKOVÁ a Martin TRBUŠEK. Identification of somatic hypermutations in the TP53 gene in B-cell chronic lymphocytic leukemia. Molecular Immunology. roč. 45, č. 5, s. 1525-1529. ISSN 0161-5890. 2008. |
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@article{749816,
author = {Malčíková, Jitka and Šmardová, Jana and Peková, Soňa and Čejková, Soňa and Kotašková, Jana and Tichý, Boris and Francová, Hana and Doubek, Michael and Brychtová, Yvona and Janek, Daniel and Pospíšilová, Šárka and Mayer, Jiří and Dvořáková, Dana and Trbušek, Martin},
article_number = {5},
keywords = {B cell chronic lymphocytic leukemia; TP53; FASAY; Somatic hypermutation; Activation induced cytidine deaminase},
language = {eng},
issn = {0161-5890},
journal = {Molecular Immunology},
title = {Identification of somatic hypermutations in the TP53 gene in B-cell chronic lymphocytic leukemia},
volume = {45},
year = {2008}
}
TY - JOUR
ID - 749816
AU - Malčíková, Jitka - Šmardová, Jana - Peková, Soňa - Čejková, Soňa - Kotašková, Jana - Tichý, Boris - Francová, Hana - Doubek, Michael - Brychtová, Yvona - Janek, Daniel - Pospíšilová, Šárka - Mayer, Jiří - Dvořáková, Dana - Trbušek, Martin
PY - 2008
TI - Identification of somatic hypermutations in the TP53 gene in B-cell chronic lymphocytic leukemia
JF - Molecular Immunology
VL - 45
IS - 5
SP - 1525-1529
EP - 1525-1529
SN - 01615890
KW - B cell chronic lymphocytic leukemia
KW - TP53
KW - FASAY
KW - Somatic hypermutation
KW - Activation induced cytidine deaminase
N2 - B-cell chronic lymphocytic leukemia is a malignant disease of elderly individuals with highly variable clinical course. Aberrations of TP53 gene together with mutational status of immunoglobulin heavy chain variable region (IgVH) are the most important prognostic factors. Here we report identification of two patients harbouring mutational mosaic of TP53 gene in their leukemic cells using FASAY methodology. On the basis of nucleotide and sequence targeting of the mutations, we can hypothesize, that the IgVH-directed hypermutation machinery is most likely responsible for these multiple TP53 mutations. This process is initiated by activation-induced cytidine deaminase, and in the case of deregulation can be targeted outside the IgVH locus resulting in tumorigenesis. This is the fist report of such TP53 mosaic in B-CLL patients.
ER -
MALČÍKOVÁ, Jitka, Jana ŠMARDOVÁ, Soňa PEKOVÁ, Soňa ČEJKOVÁ, Jana KOTAŠKOVÁ, Boris TICHÝ, Hana FRANCOVÁ, Michael DOUBEK, Yvona BRYCHTOVÁ, Daniel JANEK, Šárka POSPÍŠILOVÁ, Jiří MAYER, Dana DVOŘÁKOVÁ a Martin TRBUŠEK. Identification of somatic hypermutations in the TP53 gene in B-cell chronic lymphocytic leukemia. \textit{Molecular Immunology}. roč.~45, č.~5, s.~1525-1529. ISSN~0161-5890. 2008.
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