Biomarkers Landmark-class

Blood-Based Mass Spectrometry MRD Rivals Bone Marrow NGS in Multiple Myeloma

Targeted mass spectrometry for minimal residual disease detection in serum was compared with next-generation sequencing on bone marrow in 41 myeloma patients from the IFM-2009 trial. MS-MRD proved significantly more sensitive than standard electrophoretic methods, showed 79% concordance with NGS-MRD, and patients negative by both methods had the longest progression-free survival at 96 months. The study provides proof-of-principle that blood-based MS-MRD could offer a patient-friendly alternative to invasive bone marrow assessment.

The original study

Multiple Myeloma Minimal Residual Disease Detection: Targeted Mass Spectrometry in Blood vs Next-Generation Sequencing in Bone Marrow.

Authors
Langerhorst P, Noori S, Zajec M, De Rijke YB, Gloerich J, van Gool AJ, et al.
Journal
Clinical chemistry
Type
Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't
PMID
34643690
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Original abstract

BACKGROUND: Minimal residual disease (MRD) status assessed on bone marrow aspirates is a major prognostic biomarker in multiple myeloma (MM). In this study we evaluated blood-based targeted mass spectrometry (MS-MRD) as a sensitive, minimally invasive alternative to measure MM disease activity. METHODS: Therapy response of 41 MM patients in the IFM-2009 clinical trial (NCT01191060) was assessed with MS-MRD on frozen sera and compared to routine state-of-the-art monoclonal protein (M-protein) diagnostics and next-generation sequencing (NGS-MRD) at 2 time points. RESULTS: In all 41 patients we were able to identify clonotypic M-protein-specific peptides and perform serum-based MS-MRD measurements. MS-MRD is significantly more sensitive to detect M-protein compared to either electrophoretic M-protein diagnostics or serum free light chain analysis. The concordance between NGS-MRD and MS-MRD status in 81 paired bone marrow/sera samples was 79%. The 50% progression-free survival (PFS) was identical (49 months) for patients who were either NGS-positive or MS-positive directly after maintenance treatment. The 50% PFS was 69 and 89 months for NGS-negative and MS-negative patients, respectively. The longest 50% PFS (96 months) was observed in patients who were MRD-negative for both methods. MS-MRD relapse during maintenance treatment was significantly correlated to poor PFS (P < 0.0001). CONCLUSIONS: Our data indicate proof-of-principle that MS-MRD evaluation in blood is a feasible, patient friendly alternative to NGS-MRD assessed on bone marrow. Clinical validation of the prognostic value of MS-MRD and its complementary value in MRD-evaluation of patients with MM is warranted in an independent larger cohort.