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.

Základní údaje

Originální název

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

Autoři

ROMŽOVÁ, Marianna (703 Slovensko, garant, domácí), Dagmar SMITALOVÁ (203 Česká republika, domácí), Nikola TOM (203 Česká republika, domácí), Tomáš JURČEK (203 Česká republika, domácí), Martin ČULEN (703 Slovensko, domácí), Daniela ŽÁČKOVÁ (203 Česká republika), Jiří MAYER (203 Česká republika, domácí) a Zdeněk RÁČIL (203 Česká republika, domácí)

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 6.998

Kód RIV

RIV/00216224:14740/20:00118611

Organizační jednotka

Středoevropský technologický institut

DOI

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

UT WoS

000512165700001

Klíčová slova anglicky

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

Štítky

14110212, 14110512, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 3. 8. 2020 10:44, Mgr. Pavla Foltynová, Ph.D.

Anotace

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.

Návaznosti

NV17-30397A, projekt VaV

Název: 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 a 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, roč. 189, č. 3, s. 469-474. ISSN 0007-1048. Dostupné z: 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 a 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, roč.~189, č.~3, s.~469-474. ISSN~0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.16382.

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