Fragment analysis represents a suitable approach for the
detection of hotspot c.7541_7542delCT NOTCH1 mutation in
chronic lymphocytic leukemia

J 2017

Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia

VÁVROVÁ, Eva, Barbara KANTOROVÁ, Barbara VONKOVÁ, Jitka KABÁTHOVÁ, H. SKUHROVA-FRANCOVA et. al.

Základní údaje

Originální název

Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia

Autoři

VÁVROVÁ, Eva (203 Česká republika, domácí), Barbara KANTOROVÁ (203 Česká republika, domácí), Barbara VONKOVÁ (203 Česká republika, domácí), Jitka KABÁTHOVÁ (203 Česká republika), H. SKUHROVA-FRANCOVA (203 Česká republika), Eva DIVÍŠKOVÁ (203 Česká republika), Ondřej LETOCHA (203 Česká republika), Jana KOTAŠKOVÁ (203 Česká republika, domácí), 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

Leukemia Research, Oxford, Pergamon-Elsevier Science LTD, 2017, 0145-2126

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30204 Oncology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.319

Kód RIV

RIV/00216224:14110/17:00094406

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.leukres.2017.08.001

UT WoS

000415601500021

Klíčová slova anglicky

CLL; NOTCH1 mutation; Fragment analysis; Sequencing; Allele-specific PCR

Štítky

EL OK, podil

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 20. 3. 2018 15:13, Soňa Böhmová

Anotace

V originále

The hotspot c.7541_7542delCT NOTCH1 mutation has been proven to have a negative clinical impact in chronic lymphocytic leukemia (CLL). However, an optimal method for its detection has not yet been specified. The aim of our study was to examine the presence of the NOTCH1 mutation in CLL using three commonly used molecular methods. Sanger sequencing, fragment analysis and allele-specific PCR were compared in the detection of the c.7541_7542delCT NOTCH1 mutation in 201 CLL patients. In 7 patients with inconclusive mutational analysis results, the presence of the NOTCH1 mutation was also confirmed using ultra-deep next generation sequencing. The NOTCH1 mutation was detected in 15% (30/201) of examined patients. Only fragment analysis was able to identify all 30 NOTCH1-mutated patients. Sanger sequencing and allele-specific PCR showed a lower detection efficiency, determining 93% (28/30) and 80% (24/30) of the present NOTCH1 mutations, respectively. Considering these three most commonly used methodologies for c.7541_7542delCT NOTCH1 mutation screening in CLL, we defined fragment analysis as the most suitable approach for detecting the hotspot NOTCH1 mutation.

Návaznosti

LM2015064, projekt VaV

Název: Český národní uzel Evropské infrastruktury pro translační medicínu (Akronym: EATRIS-ERIC-CZ)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Involvement of Czech Translational Medicine Infrastructure to the European Advanced Translational Research Infrastructure in Medicine

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC 2020

NV15-31834A, projekt VaV

Název: Vliv selekce genomických poškození na průběh chronické lymfocytární leukémie

TE02000058, projekt VaV

Název: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Akronym: MOLDIMED)

Investor: Technologická agentura ČR, Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu

Citovat

VÁVROVÁ, Eva, Barbara KANTOROVÁ, Barbara VONKOVÁ, Jitka KABÁTHOVÁ, H. SKUHROVA-FRANCOVA, Eva DIVÍŠKOVÁ, Ondřej LETOCHA, Jana KOTAŠKOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER a Šárka POSPÍŠILOVÁ. Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia. Leukemia Research. Oxford: Pergamon-Elsevier Science LTD, 2017, roč. 60, SEP 2017, s. 145-150. ISSN 0145-2126. Dostupné z: https://dx.doi.org/10.1016/j.leukres.2017.08.001.

@article{1400037,
   author = {Vávrová, Eva and Kantorová, Barbara and Vonková, Barbara and Kabáthová, Jitka and SkuhrovaandFrancova, H. and Divíšková, Eva and Letocha, Ondřej and Kotašková, Jana and Brychtová, Yvona and Doubek, Michael and Mayer, Jiří and Pospíšilová, Šárka},
   article_location = {Oxford},
   article_number = {SEP 2017},
   doi = {http://dx.doi.org/10.1016/j.leukres.2017.08.001},
   keywords = {CLL; NOTCH1 mutation; Fragment analysis; Sequencing; Allele-specific PCR},
   language = {eng},
   issn = {0145-2126},
   journal = {Leukemia Research},
   title = {Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia},
   volume = {60},
   year = {2017}
}

TY  - JOUR
ID  - 1400037
AU  - Vávrová, Eva - Kantorová, Barbara - Vonková, Barbara - Kabáthová, Jitka - Skuhrova-Francova, H. - Divíšková, Eva - Letocha, Ondřej - Kotašková, Jana - Brychtová, Yvona - Doubek, Michael - Mayer, Jiří - Pospíšilová, Šárka
PY  - 2017
TI  - Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia
JF  - Leukemia Research
VL  - 60
IS  - SEP 2017
SP  - 145-150
EP  - 145-150
PB  - Pergamon-Elsevier Science LTD
SN  - 01452126
KW  - CLL
KW  - NOTCH1 mutation
KW  - Fragment analysis
KW  - Sequencing
KW  - Allele-specific PCR
N2  - The hotspot c.7541_7542delCT NOTCH1 mutation has been proven to have a negative clinical impact in chronic lymphocytic leukemia (CLL). However, an optimal method for its detection has not yet been specified. The aim of our study was to examine the presence of the NOTCH1 mutation in CLL using three commonly used molecular methods. Sanger sequencing, fragment analysis and allele-specific PCR were compared in the detection of the c.7541_7542delCT NOTCH1 mutation in 201 CLL patients. In 7 patients with inconclusive mutational analysis results, the presence of the NOTCH1 mutation was also confirmed using ultra-deep next generation sequencing. The NOTCH1 mutation was detected in 15% (30/201) of examined patients. Only fragment analysis was able to identify all 30 NOTCH1-mutated patients. Sanger sequencing and allele-specific PCR showed a lower detection efficiency, determining 93% (28/30) and 80% (24/30) of the present NOTCH1 mutations, respectively. Considering these three most commonly used methodologies for c.7541_7542delCT NOTCH1 mutation screening in CLL, we defined fragment analysis as the most suitable approach for detecting the hotspot NOTCH1 mutation.
ER  -

VÁVROVÁ, Eva, Barbara KANTOROVÁ, Barbara VONKOVÁ, Jitka KABÁTHOVÁ, H. SKUHROVA-FRANCOVA, Eva DIVÍŠKOVÁ, Ondřej LETOCHA, Jana KOTAŠKOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER a Šárka POSPÍŠILOVÁ. Fragment analysis represents a suitable approach for the detection of hotspot c.7541\_{}7542delCT NOTCH1 mutation in chronic lymphocytic leukemia. \textit{Leukemia Research}. Oxford: Pergamon-Elsevier Science LTD, 2017, roč.~60, SEP 2017, s.~145-150. ISSN~0145-2126. Dostupné z: https://dx.doi.org/10.1016/j.leukres.2017.08.001.

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