Novel Illumina-based next generation sequencing approach with
one-round amplification provides early and reliable detection
of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia

J 2020

Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia

ROMŽOVÁ, Marianna, Dagmar SMITALOVÁ, Nikola TOM, Tomáš JURČEK, Martin ČULEN et. al.

Basic information

Original name

Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia

Authors

ROMŽOVÁ, Marianna (703 Slovakia, guarantor, belonging to the institution), Dagmar SMITALOVÁ (203 Czech Republic, belonging to the institution), Nikola TOM (203 Czech Republic, belonging to the institution), Tomáš JURČEK (203 Czech Republic, belonging to the institution), Martin ČULEN (703 Slovakia, belonging to the institution), Daniela ŽÁČKOVÁ (203 Czech Republic), Jiří MAYER (203 Czech Republic, belonging to the institution) and Zdeněk RÁČIL (203 Czech Republic, belonging to the institution)

Edition

British journal of haematology, England, Wiley-Blackwell, 2020, 0007-1048

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 6.998

RIV identification code

RIV/00216224:14740/20:00118611

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.1111/bjh.16382

UT WoS

000512165700001

Keywords in English

next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance

Abstract

V originále

The occurrence of mutations in the BCR-ABL1 kinase domain (KD) can lead to treatment resistance in chronic myeloid leukaemia patients. Nowadays, next-generation sequencing (NGS) is an alternative method for the detection of kinase domain mutations, compared to routinely used Sanger sequencing, providing a higher sensitivity of mutation detection. However, in the protocols established so far multiple rounds of amplification limit reliable mutation detection to approximately 5% variant allele frequency. Here, we present a simplified, one-round amplification NGS protocol for the Illumina platform, which offers a robust early detection of BCR-ABL1 KD mutations with a reliable detection limit of 3% variant allele frequency.

Links

NV17-30397A, research and development project

Name: Mutační analýza primitivních buněčných populací u chronické myeloidní leukémie: za hranicí BCR-ABL1

Citovat

ROMŽOVÁ, Marianna, Dagmar SMITALOVÁ, Nikola TOM, Tomáš JURČEK, Martin ČULEN, Daniela ŽÁČKOVÁ, Jiří MAYER and Zdeněk RÁČIL. Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia. British journal of haematology. England: Wiley-Blackwell, 2020, vol. 189, No 3, p. 469-474. ISSN 0007-1048. Available from: https://dx.doi.org/10.1111/bjh.16382.

@article{1672824,
   author = {Romžová, Marianna and Smitalová, Dagmar and Tom, Nikola and Jurček, Tomáš and Čulen, Martin and Žáčková, Daniela and Mayer, Jiří and Ráčil, Zdeněk},
   article_location = {England},
   article_number = {3},
   doi = {http://dx.doi.org/10.1111/bjh.16382},
   keywords = {next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance},
   language = {eng},
   issn = {0007-1048},
   journal = {British journal of haematology},
   title = {Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia},
   url = {https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382},
   volume = {189},
   year = {2020}
}

TY  - JOUR
ID  - 1672824
AU  - Romžová, Marianna - Smitalová, Dagmar - Tom, Nikola - Jurček, Tomáš - Čulen, Martin - Žáčková, Daniela - Mayer, Jiří - Ráčil, Zdeněk
PY  - 2020
TI  - Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia
JF  - British journal of haematology
VL  - 189
IS  - 3
SP  - 469-474
EP  - 469-474
PB  - Wiley-Blackwell
SN  - 00071048
KW  - next generation sequencing
KW  - illumina
KW  - BCR-ABL1
KW  - kinase domain mutation
KW  - TKI resistance
UR  - https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
L2  - https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
N2  - The occurrence of mutations in the BCR-ABL1 kinase domain (KD) can lead to treatment resistance in chronic myeloid leukaemia patients. Nowadays, next-generation sequencing (NGS) is an alternative method for the detection of kinase domain mutations, compared to routinely used Sanger sequencing, providing a higher sensitivity of mutation detection. However, in the protocols established so far multiple rounds of amplification limit reliable mutation detection to approximately 5% variant allele frequency. Here, we present a simplified, one-round amplification NGS protocol for the Illumina platform, which offers a robust early detection of BCR-ABL1 KD mutations with a reliable detection limit of 3% variant allele frequency.
ER  -

ROMŽOVÁ, Marianna, Dagmar SMITALOVÁ, Nikola TOM, Tomáš JURČEK, Martin ČULEN, Daniela ŽÁČKOVÁ, Jiří MAYER and Zdeněk RÁČIL. Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia. \textit{British journal of haematology}. England: Wiley-Blackwell, 2020, vol.~189, No~3, p.~469-474. ISSN~0007-1048. Available from: https://dx.doi.org/10.1111/bjh.16382.

Detailed Information on Publication Record