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Statements

Subject Item
n2:RIV%2F00216224%3A14740%2F14%3A00078302%21RIV15-MSM-14740___
rdf:type
n15:Vysledek skos:Concept
rdfs:seeAlso
http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf
dcterms:description
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. 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.
dcterms:title
TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia
skos:prefLabel
TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia
skos:notation
RIV/00216224:14740/14:00078302!RIV15-MSM-14740___
n3:aktivita
n12:P
n3:aktivity
P(7E13008), P(ED1.1.00/02.0068), P(NT13493), P(NT13519)
n3:cisloPeriodika
6
n3:dodaniDat
n11:2015
n3:domaciTvurceVysledku
n13:9485066 n13:1957864 n13:9528385 n13:2093995
n3:druhVysledku
n9:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n19:predkladatel
n3:idSjednocenehoVysledku
50878
n3:idVysledku
RIV/00216224:14740/14:00078302
n3:jazykVysledku
n20:eng
n3:klicovaSlova
TP53; p53; chronic lymphocytic leukemia; clonal evolution; next generation sequencing
n3:klicoveSlovo
n4:next%20generation%20sequencing n4:p53 n4:TP53 n4:clonal%20evolution n4:chronic%20lymphocytic%20leukemia
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[1B61B3F18CA3]
n3:nazevZdroje
Human Mutation
n3:obor
n16:FD
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
4
n3:projekt
n8:NT13493 n8:NT13519 n8:ED1.1.00%2F02.0068 n8:7E13008
n3:rokUplatneniVysledku
n11:2014
n3:svazekPeriodika
35
n3:tvurceVysledku
Pavlová, Šárka Malčíková, Jitka Pospíšilová, Šárka Staňo Kozubík, Kateřina
n3:wos
000336618900004
s:issn
1059-7794
s:numberOfPages
9
n10:doi
10.1002/humu.22508
n18:organizacniJednotka
14740