Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study
In: Leukemia, Jg. 33 (2019-06-26), S. 2241-2253
Online
unknown
Zugriff:
International audience; Amplicon-based next-generation sequencing (NGS) of immunoglobulin (IG) and T-cell receptor (TR) gene rearrangements for clonality assessment, marker identification and quantification of minimal residual disease (MRD) in lymphoid neoplasms has been the focus of intense research, development and application. However, standardization and validation in a scientifically controlled multicentre setting is still lacking. Therefore, IG/TR assay development and design, including bioinformatics, was performed within the EuroClonality-NGS working group and validated for MRD marker identification in acute lymphoblastic leukaemia (ALL). Five EuroMRD ALL reference laboratories performed IG/TR NGS in 50 diagnostic ALL samples, and compared results with those generated through routine IG/TR Sanger sequencing. A central polytarget quality control (cPT-QC) was used to monitor primer performance, and a central in-tube quality control (cIT-QC) was spiked into each sample as a library-specific quality control and calibrator. NGS identified 259 (average 5.2/sample, range 0–14) clonal sequences vs. Sanger-sequencing 248 (average 5.0/sample, range 0–14). NGS primers covered possible IG/TR rearrangement types more completely compared with local multiplex PCR sets and enabled sequencing of bi-allelic rearrangements and weak PCR products. The cPT-QC showed high reproducibility across all laboratories. These validated and reproducible quality-controlled EuroClonality-NGS assays can be used for standardized NGS-based identification of IG/TR markers in lymphoid malignancies.
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Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study
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| Autor/in / Beteiligte Person: | Brüggemann, Monika ; Kotrova, Michaela ; Knecht, Henrik ; Bartram, Jack ; Boudjogrha, Myriam ; Bystry, Vojtech ; Fazio, Grazia ; Froňková, Eva ; Giraud, Mathieu ; Grioni, Andrea ; Hancock, Jeremy ; Herrmann, Dietrich ; Jimenez, Cristina ; Krejci, Adam ; Moppett, John ; Reigl, Tomas ; Salson, Mikaël ; Scheijen, Blanca ; Schwarz, Martin ; Songia, Simona ; Svaton, Michael ; van Dongen, Jacques ; Villarese, Patrick ; Wakeman, Stephanie ; Wright, Gary ; Cazzaniga, Giovanni ; Davi, Frédéric ; García-Sanz, Ramón ; Davi, David ; Groenen, Patricia ; Hummel, Michael ; Macintyre, Elizabeth ; Stamatopoulos, Kostas ; Pott, Christiane ; Trka, Jan ; Darzentas, Nikos ; Langerak, Anton ; Gonzalez, David ; Bruggemann, M ; Kotrova, M ; Knecht, H ; Bartram, J ; Boudjogrha, M ; Bystry, V ; Fazio, G ; Fronkova, E ; Giraud, M ; Grioni, A ; Hancock, J ; Herrmann, D ; Jimenez, C ; Krejci, A ; Moppett, J ; Reigl, T ; Salson, M ; Scheijen, B ; Schwarz, M ; Songia, S ; Svaton, M ; van Dongen, J ; Villarese, P ; Wakeman, S ; Wright, G ; Cazzaniga, G ; Davi, F ; Garcia-Sanz, R ; Gonzalez, D ; Groenen, P ; Hummel, M ; Macintyre, E ; Stamatopoulos, K ; Pott, C ; Trka, J ; Darzentas, N ; Langerak, A ; Immunology ; University Medical Center of Schleswig–Holstein = Universitätsklinikum Schleswig-Holstein (UKSH) ; University, Kiel ; Childhood Leukaemia Investigation Prague (CLIP) ; University Hospital Motol [Prague] ; Centre de Recherche en Informatique, Signal et Automatique de Lille (CRIStAL) - UMR 9189 (CRIStAL) ; Centre National de la Recherche Scientifique (CNRS)-Université de Lille-Ecole Centrale de Lille ; Facultad de Quimica, Universidad Nacional Autonoma de Mexico ; Bioinformatics and Sequence Analysis (BONSAI) ; Laboratoire d'Informatique Fondamentale de Lille (LIFL) ; Université de Lille, Sciences et Technologies-Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Lille, Sciences Humaines et Sociales-Centre National de la Recherche Scientifique (CNRS)-Université de Lille, Sciences et Technologies-Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Lille, Sciences Humaines et Sociales-Centre National de la Recherche Scientifique (CNRS)-Inria Lille - Nord Europe ; Institut National de Recherche en Informatique et en Automatique (Inria) ; Liebherr-Werk Nenzing GmbH ; Department of Immunology ; Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163) ; Imagine - Institut des maladies génétiques (IMAGINE - U1163) ; Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM) ; Bristol Genetics Laboratory ; Southmead Hospital, North Bristol NHS Trust ; Great Ormond Street Hospital for Children [London] (GOSH) ; Service d'Hématologie Clinique [CHU Pitié-Salpêtrière] ; Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP] ; Department, Haematology ; University Hospital of Salamanca ; Hematology Department and University Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France ; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands. ; Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin ; CHU Necker - Enfants Malades [AP-HP] ; Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden ; University Hospital Schleswig–Holstein ; Department of Paediatric Haematology/Oncology ; Charles University [Prague] ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic ; Erasmus University Medical Center [Rotterdam] (Erasmus MC) ; Department of Paediatric Haematology ; Department of Hematology ; University Hospital Schleswig-Holstein [Kiel, Germany] ; Service d'Hématologie clinique [CHU Pitié-Salpêtrière] ; CHU Pitié-Salpêtrière [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) ; Central European Institute of Technology [Brno] (CEITEC MU) ; Brno University of Technology [Brno] (BUT) ; Centro Ricerca Tettamanti ; Pediatrica, Clinica ; Ospedale S. Gerardo-Ospedale S. Gerardo ; Centre de Recherche en Informatique, Signal et Automatique de Lille - UMR 9189 (CRIStAL) ; Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS) ; Bristol Genetics Laboratory (Southmead Hospital) ; Hospital, Southmead ; Instituto de Investigación Biomédica de Salamanca (IBSAL) ; Department of Pediatric Haematology ; Bristol Royal Hospital for Children ; Department of Pathology [Nijmegen] ; Radboud University Medical Center [Nijmegen] ; Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM) ; Unité d'Immunologie et d'Hématologie Pédiatrique (CHU Necker - Enfants Malades [AP-HP]) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) ; Charité - UniversitätsMedizin = Charité - University Hospital [Berlin] ; Institute of Applied Biosciences, Thessaloniki, Greece. ; Charles University [Prague] (CU) ; Centre for Cancer Research and Cell Biology ; Queen's University [Belfast] (QUB) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) |
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| Zeitschrift: | Leukemia, Jg. 33 (2019-06-26), S. 2241-2253 |
| Veröffentlichung: | Springer Science and Business Media LLC, 2019 |
| Medientyp: | unknown |
| ISSN: | 1476-5551 (print) ; 0887-6924 (print) |
| DOI: | 10.1038/s41375-019-0496-7 |
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