Minimal residual disease in multiple myeloma: Defining the role of next generation sequencing and flow cytometry in routine diagnostic use Review


Authors: Maclachlan, K. H.; Came, N.; Diamond, B.; Roshal, M.; Ho, C.; Thoren, K.; Mayerhoefer, M. E.; Landgren, O.; Harrison, S.
Review Title: Minimal residual disease in multiple myeloma: Defining the role of next generation sequencing and flow cytometry in routine diagnostic use
Abstract: For patients diagnosed with multiple myeloma (MM) there have been significant treatment advances over the past decade, reflected in an increasing proportion of patients achieving durable remissions. Clinical trials repeatedly demonstrate that achieving a deep response to therapy, with a bone marrow assessment proving negative for minimal residual disease (MRD), confers a significant survival advantage. To accurately assess for minute quantities of residual cancer requires highly sensitive methods; either multiparameter flow cytometry or next generation sequencing are currently recommended for MM response assessment. Under optimal conditions, these methods can detect one aberrant cell amongst 1,000,000 normal cells (a sensitivity of 10−6). Here, we will review the practical use of MRD assays in MM, including challenges in implementation for the routine diagnostic laboratory, standardisation across laboratories and clinical trials, the clinical integration of MRD status assessment into MM management and future directions for ongoing research. © 2021 Royal College of Pathologists of Australasia
Keywords: multiple myeloma; minimal residual disease; next generation sequencing; multi-parameter flow cytometry
Journal Title: Pathology
Volume: 53
Issue: 3
ISSN: 0031-3025
Publisher: Royal College of Pathologists of Australasia  
Date Published: 2021-04-01
Start Page: 385
End Page: 399
Language: English
DOI: 10.1016/j.pathol.2021.02.003
PUBMED: 33674146
PROVIDER: scopus
DOI/URL:
Notes: Review -- Export Date: 3 May 2021 -- Source: Scopus
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MSK Authors
  1. Mikhail Roshal
    214 Roshal
  2. Carl Ola Landgren
    335 Landgren
  3. Katie Lynn Thoren
    36 Thoren
  4. Caleb   Ho
    71 Ho
  5. Benjamin Diamond
    32 Diamond