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@article{1216454,
author = {Malčíková, Jitka and Pavlová, Šárka and Staňo Kozubík, Kateřina and Pospíšilová, Šárka},
article_location = {HOBOKEN},
article_number = {6},
doi = {http://dx.doi.org/10.1002/humu.22508},
keywords = {TP53; p53; chronic lymphocytic leukemia; clonal evolution; next generation sequencing},
language = {eng},
issn = {1059-7794},
journal = {Human Mutation},
title = {TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia},
url = {http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf},
volume = {35},
year = {2014}
}
TY - JOUR
ID - 1216454
AU - Malčíková, Jitka - Pavlová, Šárka - Staňo Kozubík, Kateřina - Pospíšilová, Šárka
PY - 2014
TI - TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia
JF - Human Mutation
VL - 35
IS - 6
SP - 663-671
EP - 663-671
PB - WILEY-BLACKWELL
SN - 10597794
KW - TP53
KW - p53
KW - chronic lymphocytic leukemia
KW - clonal evolution
KW - next generation sequencing
UR - http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf
L2 - http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf
N2 - In leukemia, TP53 mutations are not frequent but clearly associate with impaired survival and therapy response. Here, we describe the biological and clinical consequences of TP53 dysfunction as well as the methodical aspects of TP53 analysis in chronic lymphocytic leukemia (CLL). In CLL, TP53 defects are routinely analyzed as part of disease prognostication. Deletions of TP53 locus (17p) have been uniformly detected using I-FISH for several years. Since monoallelic mutations have also been shown to have negative prognostic impact, it is recommended to examine both TP53 mutations and deletions. Several methods are used to detect TP53 mutations, and next-generation sequencing (NGS) is becoming a convenient option for routine analysis. Besides this, ultradeep NGS permits the detection of minor clones carrying TP53 mutations, even below 1%. The prognostic impact of minor TP53-defective subclones is currently unknown, nevertheless they unequivocally bear the risk of being selected by therapy. Prospective studies assessing the consequences of carrying such clones are in progress.
ER -
MALČÍKOVÁ, Jitka, Šárka PAVLOVÁ, Kateřina STAŇO KOZUBÍK and Šárka POSPÍŠILOVÁ. TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia. \textit{Human Mutation}. HOBOKEN: WILEY-BLACKWELL, 2014, vol.~35, No~6, p.~663-671. ISSN~1059-7794. Available from: https://dx.doi.org/10.1002/humu.22508.
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