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; Dagmar SMITALOVÁ; Nikola TOM; Tomáš JURČEK; Martin ČULEN; Daniela ŽÁČKOVÁ; Jiří MAYER a Zdeněk RÁČIL

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

https://doi.org/10.1111/bjh.16382

UT WoS

000512165700001

EID Scopus

2-s2.0-85079161451

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://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 = {https://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://doi.org/10.1111/bjh.16382.

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