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J Hematol Oncol. 2018 Aug 22;11(1):105. doi: 10.1186/s13045-018-0652-y.

Simple deep sequencing-based post-remission MRD surveillance predicts clinical relapse in B-ALL.

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Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, 10021, USA.
Department of Computer Science, School of Engineering, Cornell University, Ithaca, New York, NY, 14853, USA.
Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, 10021, USA.



Next-generation sequencing (NGS) of the rearranged immunoglobulin heavy-chain gene has emerged as a highly sensitive method to detect minimal residual disease (MRD) in B acute lymphoblastic leukemia/lymphoma (B-ALL). However, a sensitive and easily implemented NGS methodology for routine clinical laboratories is lacking and clinical utility of NGS-MRD surveillance in a post-remission setting to predict clinical relapse has not been determined.


Here we described a simple and quantitative NGS platform and assessed its performance characteristics, quantified NGS-MRD levels in 122 B-ALL samples from 30 B-ALL patients, and explored the clinical merit of NGS-based MRD surveillance.


The current NGS platform has an analytic sensitivity of 0.0001% with excellent specificity and reproducibility. Overall, it performs better than routine multi-color flow cytometry (MCF) in detecting MRD. Utilizing this assay in MRD surveillance in a post-remission setting showed that it detected conversion to positive MRD (CPMRD) in patients with NGS-based molecular remission much earlier than MCF, and that positive MRD conversion could be detected as early as 25.6 weeks prior to clinical relapse in closely surveilled patients. Post-remission CPMRD, but not NGS-based MRD positivity at end of induction, can accurately predict clinical relapse in our limited cohort of B-ALL patients.


This pilot proof-of-concept study illustrates the clinical utility of a simple, sensitive, and clinically feasible MRD detection platform in post-remission NGS-based MRD surveillance and early relapse detection in B-ALL patients.


B lymphoblastic leukemia/lymphoma; MRD surveillance; NGS; Post-remission setting; Relapse

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