Minimal residual disease (MRD) is a key driver of multiple myeloma (MM) relapse, requiring highly sensitive detection methods. Researchers of a retrospective study of 125 patients with MM undergoing autologous stem-cell transplantation (ASCT) compared MRD detection using next-generation sequencing (NGS) and allele-specific polymerase chain reaction (ASO-PCR). The NGS method, applicable in 90% of cases, was one to two logs more sensitive than ASO-PCR. Patients with MRD negativity by NGS (MRDNGS[-]; <10⁻⁶) in post-ASCT bone marrow showed significantly better 4-year progression-free survival (PFS; 96%) and overall survival (OS; 100%) compared to patients who were MRDNGS(+). Even among those achieving complete response, MRDNGS(-) patients had superior PFS.

The study also demonstrated the prognostic value of NGS-based MRD assessment in autografts. Patients with MRD negativity (<10⁻⁷) in autografts had 92% PFS and 100% OS at 4 years post-ASCT. Patients who were post-ASCT with NGS-detected MRD positivity who received novel-agent treatments had better PFS than untreated MRD-positive patients. These findings highlight the superior accuracy of NGS over ASO-PCR, supporting its role in guiding post-ASCT strategies and improving outcomes for patients with MM.

Reference: Takamatsu H, Takezako N, Zheng J,. Prognostic value of sequencing-based minimal residual disease detection in patients with multiple myeloma who underwent autologous stem-cell transplantation. Ann Oncol. 2017 Oct 1;28(10):2503-2510. doi: 10.1093/annonc/mdx340. Erratum in: Ann Oncol. 2023;34(3):322. doi: 10.1016/j.annonc.2022.08.004.