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.

Basic information

Original name

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

Authors

VÁVROVÁ, Eva (203 Czech Republic, belonging to the institution), Barbara KANTOROVÁ (203 Czech Republic, belonging to the institution), Barbara VONKOVÁ (203 Czech Republic, belonging to the institution), Jitka KABÁTHOVÁ (203 Czech Republic), H. SKUHROVA-FRANCOVA (203 Czech Republic), Eva DIVÍŠKOVÁ (203 Czech Republic), Ondřej LETOCHA (203 Czech Republic), Jana KOTAŠKOVÁ (203 Czech Republic, belonging to the institution), Yvona BRYCHTOVÁ (203 Czech Republic), Michael DOUBEK (203 Czech Republic, belonging to the institution), Jiří MAYER (203 Czech Republic, belonging to the institution) and Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30204 Oncology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 2.319

RIV identification code

RIV/00216224:14110/17:00094406

Organization unit

Faculty of Medicine

DOI

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

UT WoS

000415601500021

Keywords in English

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

Abstract

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.

Links

LM2015064, research and development project

Name: Český národní uzel Evropské infrastruktury pro translační medicínu (Acronym: EATRIS-ERIC-CZ)

Investor: Ministry of Education, Youth and Sports of the CR

LQ1601, research and development project

Name: CEITEC 2020 (Acronym: CEITEC2020)

Investor: Ministry of Education, Youth and Sports of the CR

NV15-31834A, research and development project

Name: Vliv selekce genomických poškození na průběh chronické lymfocytární leukémie

TE02000058, research and development project

Name: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Acronym: MOLDIMED)

Investor: Technology Agency of the Czech Republic

Citovat

VÁVROVÁ, Eva, Barbara KANTOROVÁ, Barbara VONKOVÁ, Jitka KABÁTHOVÁ, H. SKUHROVA-FRANCOVA, Eva DIVÍŠKOVÁ, Ondřej LETOCHA, Jana KOTAŠKOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER and 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, vol. 60, SEP 2017, p. 145-150. ISSN 0145-2126. Available from: 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 and 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, vol.~60, SEP 2017, p.~145-150. ISSN~0145-2126. Available from: https://dx.doi.org/10.1016/j.leukres.2017.08.001.

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