Journal
LEUKEMIA
Volume 28, Issue 6, Pages 1299-1307Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/leu.2013.375
Keywords
immunoglobulin (IGH) gene rearrangement; acute lymphoblastic leukemia; mantle cell lymphoma; multiple myeloma; T-cell receptor gene rearrangement (TCR)
Categories
Funding
- Progetto di Rilevante Interesse Nazionale (PRIN 2009) from Ministero Italiano dell'Universita e della Ricerca (MIUR), Roma, Italy [7.07.02.60 AE01]
- Progetti di Ricerca Finalizzata 2008 (head unit: IRCCS Centro di Riferimento Oncologico della Basilicata (CROB)
- Rionero in Vulture (Potenza), Italy [7.07.08.60 P49]
- Progetto di Ricerca Sanitaria Finalizzata 2008, (head unit: Divisione di Ematologia, A. O. S. Maurizio, Bolzano/Bozen, Italy [7.07.08.60 P51]
- Progetto di Ricerca Sanitaria Finalizzata 2009 (head unit: Divisione di Ematologia, A. O. S. Maurizio, Bolzano/Bozen, Italy [RF-2009-1469205]
- Progetto di Ricerca Sanitaria Finalizzata 2010 (head unit: Divisione di Ematologia, A. O. S. Maurizio, Bolzano/Bozen, Italy [RF-2010-2307262]
- Fondi di Ricerca Locale, Universita degli Studi di Torino, Torino, Italy
- Fondazione Neoplasie del sangue (FO. NE. SA), Torino, Italy
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In this study, we compared immunoglobulin heavy-chain-gene-based minimal residual disease (MRD) detection by real-time quantitative PCR (RQ-PCR) and next-generation sequencing (NGS) to assess whether NGS could overcome some limitations of RQ-PCR and further increase sensitivity, specificity, accuracy and reproducibility. In total, 378 samples from 55 patients with acute lymphoblastic leukemia (ALL), mantle cell lymphoma (MCL) or multiple myeloma (MM) were investigated for clonotype identification, clonotype identity and comparability of MRD results. Forty-five clonotypes were identified by RQ-PCR and 49 by NGS. Clonotypes identified by both tools were identical or > 97% homologous in 96% of cases. Both tools were able to routinely reach a sensitivity level of 1 x E- 05. A good correlation of MRD results was observed (R = 0.791, P < 0.001), with excellent concordance in 79.6% of cases. Few discordant cases were observed across all disease subtypes. NGS showed at least the same level of sensitivity as allele-specific oligonucleotides-PCR, without the need for patient-specific reagents. We conclude that NGS is an effective tool for MRD monitoring in ALL, MCL and MM. Prospective comparative analysis of unselected cases is required to validate the clinical impact of NGS-based MRD assessment.
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