Analytical and clinical validation of a novel in-house deep-sequencing method for minimal residual disease monitoring in a phase II trial for multiple myeloma

LEUKEMIA — 2017 

Martinez-Lopez J., et al.

This work analytically and clinically validated an in-house deep-sequencing workflow for MRD monitoring in multiple myeloma, demonstrating high applicability, sensitivity and prognostic value. 

Topics

Hematologic malignancies · Multiple myeloma · MRD · TRACKseq

Expanded summary

This study described a simplified in-house deep-sequencing method to identify and quantify MRD in multiple myeloma using immunoglobulin gene rearrangements. The workflow was evaluated in 73 multiple myeloma patients from the PETHEMA/GEM2010MAS65 phase II trial and compared with multiparameter flow cytometry.

The method detected a clonotype in 97% of patients, achieved an analytical sensitivity of 10⁻⁵, and showed high reproducibility across sequencing runs and platforms. MRD-negative status measured by NGS was associated with improved progression-free and overall survival, and the study reported strong concordance with flow cytometry.

For Altum, this paper supports the feasibility of implementing standardized, lab-based NGS MRD monitoring in clinical workflows and strengthens the scientific foundation for scalable MRD testing in multiple myeloma.

View article: https://doi.org/10.1038/leu.2017.58