TP53 mutation analysis in chronic lymphocytic leukemia:
comparison of different detection methods

J 2015

TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods

KANTOROVÁ, Barbara, Jitka MALČÍKOVÁ, Jana ŠMARDOVÁ, Šárka PAVLOVÁ, Martin TRBUŠEK et. al.

Základní údaje

Originální název

TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods

Autoři

KANTOROVÁ, Barbara (203 Česká republika, domácí), Jitka MALČÍKOVÁ (203 Česká republika, domácí), Jana ŠMARDOVÁ (203 Česká republika), Šárka PAVLOVÁ (203 Česká republika, domácí), Martin TRBUŠEK (203 Česká republika, domácí), Nikola TOM (203 Česká republika, domácí), Karla PLEVOVÁ (203 Česká republika, domácí), Boris TICHÝ (203 Česká republika, domácí), Sim TRUONG (840 Spojené státy), Eva DIVISKOVA (203 Česká republika), Jana KOTAŠKOVÁ (203 Česká republika, domácí), Alexandra OLTOVÁ (203 Česká republika), Nancy PATTEN (840 Spojené státy), Yvona BRYCHTOVÁ (203 Česká republika), Michael DOUBEK (203 Česká republika, domácí), Jiří MAYER (203 Česká republika, domácí) a Šárka POSPÍŠILOVÁ (203 Česká republika, garant, domácí)

Vydání

Tumor Biology, Dordrecht, Springer, 2015, 1010-4283

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.926

Kód RIV

RIV/00216224:14740/15:00082234

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1007/s13277-014-2971-0

UT WoS

000355199800029

EID Scopus

2-s2.0-84929946292

Klíčová slova anglicky

TP53 gene; Mutationanalysis; Detection methods; Chronic lymphocytic leukemia

Štítky

podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 5. 8. 2015 09:55, Martina Prášilová

Anotace

V originále

TP53 gene defects represent a strong adverse prog- nostic factor for patient survival and treatment resistance in chronic lymphocytic leukemia (CLL). Although various methods for TP53 mutation analysis have been reported, none of them allow the identification of all occurring sequence variants, and the most suitable methodology is still being discussed. The aim of this study was to determine the limita- tions of commonly used methods for TP53 mutation exami- nation in CLL and propose an optimal approach for their detection. We examined 182 CLL patients enriched for high- risk cases using denaturing high-performance liquid chroma- tography (DHPLC), functional analysis of separated alleles in yeast (FASAY), and the AmpliChip p53 Research Test in parallel. The presence of T53 gene mutations was also evalu- ated using ultra-deep next generation sequencing (NGS) in 69 patients. In total, 79 TP53 mutations in 57 (31 %) patients were found; among them, missense substitutions predominat- ed (68 % of detected mutations). Comparing the efficacy of the methods used, DHPLC and FASAY both combined with direct Sanger sequencing achieved the best results, identifying 95 % and 93 % of TP53 -mutated patients. Nevertheless, we showed that in CLL patients carrying low-proportion TP53 mutation, the more sensitive approach, e.g., ultra-deep NGS, might be more appropriate. TP53 gene analysis using DHPLC or FASAYis a suitable approach for mutation detection. Ultra- deep NGS has the potential to overcome shortcomings of methods currently used, allows the detection of minor propor- tion mutations, and represents thus a promising methodology for near future.

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

Přiložené soubory

ZVV_2014_142_1216519_TP53_mutation.pdf

Požádat o autorskou verzi souboru

Citovat

KANTOROVÁ, Barbara, Jitka MALČÍKOVÁ, Jana ŠMARDOVÁ, Šárka PAVLOVÁ, Martin TRBUŠEK, Nikola TOM, Karla PLEVOVÁ, Boris TICHÝ, Sim TRUONG, Eva DIVISKOVA, Jana KOTAŠKOVÁ, Alexandra OLTOVÁ, Nancy PATTEN, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER a Šárka POSPÍŠILOVÁ. TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods. Tumor Biology. Dordrecht: Springer, 2015, roč. 36, č. 5, s. 3371-3380. ISSN 1010-4283. Dostupné z: https://dx.doi.org/10.1007/s13277-014-2971-0.

@article{1216519,
   author = {Kantorová, Barbara and Malčíková, Jitka and Šmardová, Jana and Pavlová, Šárka and Trbušek, Martin and Tom, Nikola and Plevová, Karla and Tichý, Boris and Truong, Sim and Diviskova, Eva and Kotašková, Jana and Oltová, Alexandra and Patten, Nancy and Brychtová, Yvona and Doubek, Michael and Mayer, Jiří and Pospíšilová, Šárka},
   article_location = {Dordrecht},
   article_number = {5},
   doi = {http://dx.doi.org/10.1007/s13277-014-2971-0},
   keywords = {TP53 gene; Mutationanalysis; Detection methods; Chronic lymphocytic leukemia},
   language = {eng},
   issn = {1010-4283},
   journal = {Tumor Biology},
   title = {TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods},
   url = {http://download.springer.com/static/pdf/851/art%253A10.1007%252Fs13277-014-2971-0.pdf?auth66=1421241751_ae3f1991394a2e909c07bb253d606b7c&ext=.pdf},
   volume = {36},
   year = {2015}
}

TY  - JOUR
ID  - 1216519
AU  - Kantorová, Barbara - Malčíková, Jitka - Šmardová, Jana - Pavlová, Šárka - Trbušek, Martin - Tom, Nikola - Plevová, Karla - Tichý, Boris - Truong, Sim - Diviskova, Eva - Kotašková, Jana - Oltová, Alexandra - Patten, Nancy - Brychtová, Yvona - Doubek, Michael - Mayer, Jiří - Pospíšilová, Šárka
PY  - 2015
TI  - TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods
JF  - Tumor Biology
VL  - 36
IS  - 5
SP  - 3371-3380
EP  - 3371-3380
PB  - Springer
SN  - 10104283
KW  - TP53 gene
KW  - Mutationanalysis
KW  - Detection methods
KW  - Chronic lymphocytic leukemia
UR  - http://download.springer.com/static/pdf/851/art%253A10.1007%252Fs13277-014-2971-0.pdf?auth66=1421241751_ae3f1991394a2e909c07bb253d606b7c&ext=.pdf
L2  - http://download.springer.com/static/pdf/851/art%253A10.1007%252Fs13277-014-2971-0.pdf?auth66=1421241751_ae3f1991394a2e909c07bb253d606b7c&ext=.pdf
N2  - TP53 gene defects represent a strong adverse prog- nostic factor for patient survival and treatment resistance in chronic lymphocytic leukemia (CLL). Although various methods for TP53 mutation analysis have been reported, none of them allow the identification of all occurring sequence variants, and the most suitable methodology is still being discussed. The aim of this study was to determine the limita- tions of commonly used methods for TP53 mutation exami- nation in CLL and propose an optimal approach for their detection. We examined 182 CLL patients enriched for high- risk cases using denaturing high-performance liquid chroma- tography (DHPLC), functional analysis of separated alleles in yeast (FASAY), and the AmpliChip p53 Research Test in parallel. The presence of T53 gene mutations was also evalu- ated using ultra-deep next generation sequencing (NGS) in 69 patients. In total, 79 TP53 mutations in 57 (31 %) patients were found; among them, missense substitutions predominat- ed (68 % of detected mutations). Comparing the efficacy of the methods used, DHPLC and FASAY both combined with direct Sanger sequencing achieved the best results, identifying 95 % and 93 % of TP53 -mutated patients. Nevertheless, we showed that in CLL patients carrying low-proportion TP53 mutation, the more sensitive approach, e.g., ultra-deep NGS, might be more appropriate. TP53 gene analysis using DHPLC or FASAYis a suitable approach for mutation detection. Ultra- deep NGS has the potential to overcome shortcomings of methods currently used, allows the detection of minor propor- tion mutations, and represents thus a promising methodology for near future.
ER  -

KANTOROVÁ, Barbara, Jitka MALČÍKOVÁ, Jana ŠMARDOVÁ, Šárka PAVLOVÁ, Martin TRBUŠEK, Nikola TOM, Karla PLEVOVÁ, Boris TICHÝ, Sim TRUONG, Eva DIVISKOVA, Jana KOTAŠKOVÁ, Alexandra OLTOVÁ, Nancy PATTEN, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER a Šárka POSPÍŠILOVÁ. TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods. \textit{Tumor Biology}. Dordrecht: Springer, 2015, roč.~36, č.~5, s.~3371-3380. ISSN~1010-4283. Dostupné z: https://dx.doi.org/10.1007/s13277-014-2971-0.

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