BRUGGEMANN, M., M. KOTROVA, H. KNECHT, J. BARTRAM, M. BOUDJOGRHA, Vojtěch BYSTRÝ, G. FAZIO, E. FRONKOVA, M. GIRAUD, A. GRIONI, J. HANCOCK, D. HERRMANN, C. JIMENEZ, Adam KREJČÍ, J. MOPPETT, Tomáš REIGL, M. SALSON, B. SCHEIJEN, M. SCHWARZ, S. SONGIA, M. SVATON, J.J.M. VAN DONGEN, P. VILLARESE, S. WAKEMAN, G. WRIGHT, G. CAZZANIGA, F. DAVI, R. GARCIA-SANZ, D. GONZALEZ, P.J.T.A. GROENEN, M. HUMMEL, E.A. MACINTYRE, K. STAMATOPOULOS, C. POTT, J. TRKA, Nikos DARZENTAS and A.W. LANGERAK. 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. Leukemia. London: Nature Publishing Group, 2019, vol. 33, No 9, p. 2241-2253. ISSN 0887-6924. Available from: https://dx.doi.org/10.1038/s41375-019-0496-7.
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Basic information
Original name 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
Authors BRUGGEMANN, M. (276 Germany), M. KOTROVA (203 Czech Republic), H. KNECHT (276 Germany), J. BARTRAM (826 United Kingdom of Great Britain and Northern Ireland), M. BOUDJOGRHA (250 France), Vojtěch BYSTRÝ (203 Czech Republic, belonging to the institution), G. FAZIO (380 Italy), E. FRONKOVA (203 Czech Republic), M. GIRAUD (250 France), A. GRIONI (250 France), J. HANCOCK (826 United Kingdom of Great Britain and Northern Ireland), D. HERRMANN (276 Germany), C. JIMENEZ (724 Spain), Adam KREJČÍ (203 Czech Republic, belonging to the institution), J. MOPPETT (826 United Kingdom of Great Britain and Northern Ireland), Tomáš REIGL (203 Czech Republic, belonging to the institution), M. SALSON (250 France), B. SCHEIJEN (528 Netherlands), M. SCHWARZ (276 Germany), S. SONGIA (380 Italy), M. SVATON (203 Czech Republic), J.J.M. VAN DONGEN (528 Netherlands), P. VILLARESE (250 France), S. WAKEMAN (826 United Kingdom of Great Britain and Northern Ireland), G. WRIGHT (826 United Kingdom of Great Britain and Northern Ireland), G. CAZZANIGA (380 Italy), F. DAVI (250 France), R. GARCIA-SANZ (724 Spain), D. GONZALEZ (372 Ireland), P.J.T.A. GROENEN (528 Netherlands), M. HUMMEL (372 Ireland), E.A. MACINTYRE (250 France), K. STAMATOPOULOS (300 Greece), C. POTT (276 Germany), J. TRKA (203 Czech Republic), Nikos DARZENTAS (300 Greece, guarantor, belonging to the institution) and A.W. LANGERAK (528 Netherlands).
Edition Leukemia, London, Nature Publishing Group, 2019, 0887-6924.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30204 Oncology
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 8.665
RIV identification code RIV/00216224:14740/19:00108540
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1038/s41375-019-0496-7
UT WoS 000484399300009
Keywords in English MINIMAL RESIDUAL DISEASE; TIME QUANTITATIVE PCR; CONCERTED ACTION; BONE-MARROW; REARRANGEMENTS; RELAPSE; HEAVY; QUANTIFICATION; CHILDREN; PRIMERS
Tags rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 12/5/2020 13:32.
Abstract
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.
Links
LM2015085, research and development projectName: CERIT Scientific Cloud (Acronym: CERIT-SC)
Investor: Ministry of Education, Youth and Sports of the CR, CERIT Scientific Cloud
NV16-34272A, research and development projectName: Encyklopedie CLL podskupin: unikátní znalostní databáze vybavená bioinformatickými nástroji použitelná v personalizované biomedicíně a klinické praxi
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