| STAŇO KOZUBÍK, Kateřina, Jitka MALČÍKOVÁ, Boris TICHÝ, Jana KOTAŠKOVÁ, Marek BORSKÝ, Viera HRABČÁKOVÁ, Hana FRANCOVÁ, Iveta VALÁŠKOVÁ, Ludmila BOURKOVÁ, Jana ŠMARDOVÁ, Michael DOUBEK, Yvona BRYCHTOVÁ, Šárka POSPÍŠILOVÁ, Jiří MAYER and Martin TRBUŠEK. Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient. Cancer Genetics and Cytogenetics. 2009, vol. 189, No 1, p. 53-58. ISSN 0165-4608. |
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@article{821152,
author = {Staňo Kozubík, Kateřina and Malčíková, Jitka and Tichý, Boris and Kotašková, Jana and Borský, Marek and Hrabčáková, Viera and Francová, Hana and Valášková, Iveta and Bourková, Ludmila and Šmardová, Jana and Doubek, Michael and Brychtová, Yvona and Pospíšilová, Šárka and Mayer, Jiří and Trbušek, Martin},
article_number = {1},
keywords = {CLL;p53;MYCN},
language = {eng},
issn = {0165-4608},
journal = {Cancer Genetics and Cytogenetics},
title = {Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient},
volume = {189},
year = {2009}
}
TY - JOUR
ID - 821152
AU - Staňo Kozubík, Kateřina - Malčíková, Jitka - Tichý, Boris - Kotašková, Jana - Borský, Marek - Hrabčáková, Viera - Francová, Hana - Valášková, Iveta - Bourková, Ludmila - Šmardová, Jana - Doubek, Michael - Brychtová, Yvona - Pospíšilová, Šárka - Mayer, Jiří - Trbušek, Martin
PY - 2009
TI - Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient
JF - Cancer Genetics and Cytogenetics
VL - 189
IS - 1
SP - 53-58
EP - 53-58
SN - 01654608
KW - CLL;p53;MYCN
N2 - B-cell chronic lymphocytic leukemia (CLL) is an incurable disease with a highly variable clinical course. A proportion of patients eventually progress to a higher stage of malignancy. A recent association has been observed between the presence of aberrant somatic hypermutations in leukemic cells (hypermutations occurring outside of the immunoglobulin locus) and the transformation to a diffuse large B-cell lymphoma or prolymphocytic leukemia. In this study, we report on the rarely observed blastic transformation in a CLL patient who had previously been shown to harbor aberrant somatic hypermutations in the TP53 tumor-suppressor gene (Mol Immunol 2008;45:1525e29). The enzyme responsible, the activation-induced cytidine deaminase, was still active within the transformation, as evidenced by the ongoing class-switch recombination of cytoplasmic immunoglobulins. The transformation was accompanied by a complete p53 inactivation, as well as complex karyotype changes including prominent amplification of MYCN oncogene. Our case-study supports the view that the aberrant somatic hypermutation is associated with transformation of CLL to a more aggressive malignancy.
ER -
STAŇO KOZUBÍK, Kateřina, Jitka MALČÍKOVÁ, Boris TICHÝ, Jana KOTAŠKOVÁ, Marek BORSKÝ, Viera HRABČÁKOVÁ, Hana FRANCOVÁ, Iveta VALÁŠKOVÁ, Ludmila BOURKOVÁ, Jana ŠMARDOVÁ, Michael DOUBEK, Yvona BRYCHTOVÁ, Šárka POSPÍŠILOVÁ, Jiří MAYER and Martin TRBUŠEK. Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient. \textit{Cancer Genetics and Cytogenetics}. 2009, vol.~189, No~1, p.~53-58. ISSN~0165-4608.
|
