TP53 Mutation Analysis in Clinical Practice: Lessons From
Chronic Lymphocytic Leukemia

J 2014

TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia

MALČÍKOVÁ, Jitka, Šárka PAVLOVÁ, Kateřina STAŇO KOZUBÍK a Šárka POSPÍŠILOVÁ

Základní údaje

Originální název

TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia

Autoři

MALČÍKOVÁ, Jitka (203 Česká republika, domácí), Šárka PAVLOVÁ (203 Česká republika, domácí), Kateřina STAŇO KOZUBÍK (203 Česká republika, domácí) a Šárka POSPÍŠILOVÁ (203 Česká republika, garant, domácí)

Vydání

Human Mutation, HOBOKEN, WILEY-BLACKWELL, 2014, 1059-7794

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 5.340

Kód RIV

RIV/00216224:14740/14:00078302

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1002/humu.22508

UT WoS

000336618900004

Klíčová slova anglicky

TP53; p53; chronic lymphocytic leukemia; clonal evolution; next generation sequencing

Štítky

kontrola MP, ok, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 28. 4. 2015 12:02, Martina Prášilová

Anotace

V originále

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.

Návaznosti

ED1.1.00/02.0068, projekt VaV

Název: CEITEC - central european institute of technology

NT13493, projekt VaV

Název: Molekulární charakterizace B buněčných receptorů a jejich vztah k evoluci genetických změn u chronické lymfocytární leukémie

NT13519, projekt VaV

Název: Časná identifikace CLL pacientů s dosud nevyselektovanými mutacemi v proteinu p53

7E13008, projekt VaV

Název: Next Generation Sequencing Platform for Targeted Personalized Therapy of Leukemia (Akronym: NGS-PTL)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Next Generation Sequencing Platform for Targeted Personalized Therapy of Leukemia

Přiložené soubory

ZVV_2014_140_1216454_TP53_Mutation_analysis.pdf

Požádat o autorskou verzi souboru

Citovat

MALČÍKOVÁ, Jitka, Šárka PAVLOVÁ, Kateřina STAŇO KOZUBÍK a Šárka POSPÍŠILOVÁ. TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia. Human Mutation. HOBOKEN: WILEY-BLACKWELL, 2014, roč. 35, č. 6, s. 663-671. ISSN 1059-7794. Dostupné z: https://dx.doi.org/10.1002/humu.22508.

@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 a Šárka POSPÍŠILOVÁ. TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia. \textit{Human Mutation}. HOBOKEN: WILEY-BLACKWELL, 2014, roč.~35, č.~6, s.~663-671. ISSN~1059-7794. Dostupné z: https://dx.doi.org/10.1002/humu.22508.

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