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

Kylee H. Maclachlan, Neil Came, Benjamin Diamond, Mikhail Roshal, Caleb Ho, Katie Thoren, Marius E. Mayerhoefer, Ola Landgren, Simon Harrison

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)385-399
Number of pages15
JournalPathology
Volume53
Issue number3
DOIs
StatePublished - Apr 2021

Keywords

  • Multiple myeloma
  • minimal residual disease
  • multi-parameter flow cytometry
  • next generation sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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