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.


Journal

British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544

Informations de publication

Date de publication:
05 2020
Historique:
received: 30 07 2019
accepted: 16 10 2019
pubmed: 11 2 2020
medline: 2 2 2021
entrez: 11 2 2020
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 32037516
doi: 10.1111/bjh.16382
doi:

Substances chimiques

Fusion Proteins, bcr-abl EC 2.7.10.2

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

469-474

Subventions

Organisme : Ministry of Health
ID : 17-30397A
Pays : International

Informations de copyright

© 2020 British Society for Haematology and John Wiley & Sons Ltd.

Références

Arezi, B. & Hogrefe, H.H. (2007) Escherichia coli DNA polymerase III ε subunit increases Moloney murine leukemia virus reverse transcriptase fidelity and accuracy of RT-PCR procedures. Analytical Biochemistry, 360, 84-91.
Baccarani, M., Deininger, M.W., Rosti, G., Hochhaus, A., Soverini, S., Apperley, J.F., Cervantes, F., Clark, R.E., Cortes, J.E., Hjorth-Hansen, H., Hughes, T.P., Kantarjian, H.M., Kim, D., Larson, R.A., Lipton, J.H., Martinelli, G., Mayer, J., Martin, C.M., Steegmann, J., Goldman, J.M. & Hehlmann, R. (2013) European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood, 122, 872-884.
Baer, C., Kern, W., Koch, S., Nadarajah, N., Schindela, S., Meggendorfer, M., Haferlach, C. & Haferlach, T. (2016) Ultra-deep sequencing leads to earlier and more sensitive detection of the tyrosine kinase inhibitor resistance mutation T315I in chronic myeloid leukemia. Haematologica, 101, 830-838.
Deininger, M.W.N., Goldman, J.M., Lydon, N. & Melo, J.V. (1997) The tyrosine kinase inhibitor CGP57148B selectively inhibits the growth of BCR-ABL-positive cells. Blood, 90, 3691-3698.
Deininger, M.W., Hodgson, J.G., Shah, N.P., Cortes, J.E., Kim, D.W., Nicolini, F.E., Talpaz, M., Baccarani, M., Müller, M.C., Li, J., Parker, W.T., Lustgarten, S., Clackson, T., Haluska, F.G., Guilhot, F., Kantarjian, H.M., Soverini, S., Hochhaus, A., Hughes, T.P., Rivera, V.M. & Branford, S. (2016) Compound mutations in BCR-ABL1 are not major drivers of primary or secondary resistance to ponatinib in CP-CML patients. Blood, 127, 703-712.
Erbilgin, Y., Eskazan, A.E., Hatirnaz Ng, O., Salihoglu, A., Elverdi, T., Firtina, S., Tasar, O., Mercan, S., Sisko, S., Khodzhaev, K., Ongoren, S., Ar, M.C., Baslar, Z., Soysal, T., Sayitoglu, M. & Ozbek, U. (2019) Deep sequencing of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia patients with resistance to tyrosine kinase inhibitors. Leukemia & Lymphoma, 60, 200-207.
Eyal, E., Tohami, T., Amir, A., Cesarkas, K., Jacob-Hirsch, J., Volchek, Y., Nagler, A., Rechavi, G. & Amariglio, N. (2013) Detection of BCR-ABL1 mutations in chronic myeloid leukaemia by massive parallel sequencing. British Journal of Haematology, 160, 477-486.
Hochhaus, A., Kreil, S., Corbin, A.S., La Rosée, P., Müller, M.C., Lahaye, T., Hanfstein, B., Schoch, C., Cross, N.C.P., Berger, U., Gschaidmeier, H., Druker, B.J. & Hehlmann, R. (2002) Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. Leukemia, 16, 2190-2196.
Kizilors, A., Crisà, E., Lea, N., Passera, R., Mian, S., Anwar, J., Best, S., Nicolini, F.E., Ireland, R., Aldouri, M., Pocock, C., Corbett, T., Gale, R., Bart-Smith, E., Weston-Smith, S., Wykes, C., Kulasekararaj, A., Jackson, S., Harrington, P., McLornan, D., Raj, K., Pagliuca, A., Mufti, G.J. & de Lavallade, H. (2019) Effect of low-level BCR-ABL1 kinase domain mutations identified by next-generation sequencing in patients with chronic myeloid leukaemia: a population-based study. The Lancet Haematology, 6, e276-e284.
Machova Polakova, K., Kulvait, V., Benesova, A., Linhartova, J., Klamova, H., Jaruskova, M., de Benedittis, C., Haferlach, T., Baccarani, M., Martinelli, G., Stopka, T., Ernst, T., Hochhaus, A., Kohlmann, A. & Soverini, S. (2015) Next-generation deep sequencing improves detection of BCR-ABL1 kinase domain mutations emerging under tyrosine kinase inhibitor treatment of chronic myeloid leukemia patients in chronic phase. Journal of Cancer Research and Clinical Oncology, 141, 887-899.
Poláková, K.M., Polívková, V., Rulcová, J., Klamová, H., Jurček, T., Dvořáková, D., Žáčková, D., Pospíšil, Z., Mayer, J. & Moravcová, J. (2010) Constant BCR-ABL transcript level ≥0.1% (IS) in patients with CML responding to imatinib with complete cytogenetic remission may indicate mutation analysis. Experimental Hematology, 38, 20-26.
Potapov, V. & Ong, J.L. (2017) Examining sources of error in PCR by single-molecule sequencing. PLoS ONE, 12, e0169774.
Schmitt, M.W., Fox, E.J., Prindle, M.J., Reid-Bayliss, K.S., True, L.D., Radich, J.P. & Loeb, L.A. (2015) Sequencing small genomic targets with high efficiency and extreme accuracy. Nature Methods, 12, 423-425.
Soverini, S., De Benedittis, C., Polakova, K.M., Brouckova, A., Horner, D., Iacono, M., Castagnetti, F., Gugliotta, G., Palandri, F., Papayannidis, C., Iacobucci, I., Venturi, C., Bochicchio, M.T., Klamova, H., Cattina, F., Russo, D., Bresciani, P., Binotto, G., Giannini, B., Kohlmann, A., Haferlach, T., Roller, A., Rosti, G., Cavo, M., Baccarani, M. & Martinelli, G. (2013) Unraveling the complexity of tyrosine kinase inhibitor-resistant populations by ultra-deep sequencing of the BCR-ABL kinase domain. Blood, 122, 1634-1648.
Soverini, S., De Benedittis, C., Polakova, K.M., Linhartova, J., Castagnetti, F., Gugliotta, G., Papayannidis, C., Mancini, M., Klamova, H., Salvucci, M., Crugnola, M., Iurlo, A., Albano, F., Russo, D., Rosti, G., Cavo, M., Baccarani, M. & Martinelli, G. (2016) Next-generation sequencing for sensitive detection of BCR-ABL1 mutations relevant to tyrosine kinase inhibitor choice in imatinib-resistant patients. Oncotarget, 7, 21982-21990.

Auteurs

Marianna Romzova (M)

Department of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Department of Biochemistry, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Dagmar Smitalova (D)

Department of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Department of Internal medicine, Hematology and Oncology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Nikola Tom (N)

Department of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.

Tomas Jurcek (T)

Department of Internal medicine, Hematology and Oncology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Internal Hematology and Oncology Clinic, University Hospital Brno, Brno, Czech Republic.

Martin Culen (M)

Department of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Department of Internal medicine, Hematology and Oncology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Internal Hematology and Oncology Clinic, University Hospital Brno, Brno, Czech Republic.

Daniela Zackova (D)

Internal Hematology and Oncology Clinic, University Hospital Brno, Brno, Czech Republic.

Jiri Mayer (J)

Department of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Department of Internal medicine, Hematology and Oncology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Internal Hematology and Oncology Clinic, University Hospital Brno, Brno, Czech Republic.

Zdenek Racil (Z)

Department of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Internal Hematology and Oncology Clinic, University Hospital Brno, Brno, Czech Republic.

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