Multiple Myeloma

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Multiple myeloma (MM) is a bone marrow plasma cell dysplasia that represents 2% of all new cancer cases and over 17% of hematologic malignancies.

Stratification of patients into various risk groups based on chromosomal markers is being utilized for prognosis counselling, selection, and sequencing of therapy approaches.

Newly diagnosed MM is typically sensitive to a variety of cytotoxic drugs. Therapeutic advances including autologous bone marrow transplantation have significantly improved the outcome of many patients; however, most myeloma patients suffer relapse after initial treatment. Treatment of MM has been rapidly evolving with the introduction of new classes and a newer generation of drugs: immunomodulatory drugs (IMiDs), proteasome inhibitors (PIs), monoclonal antibodies, and histone deacetylase (HDAC) inhibitors. Other emerging immunotherapy approaches such as chimeric antigen receptor (CAR)-T cell therapy and bi-specific T-cell engagers (BITEs) appear quite promising and will further change the treatment landscape.

Diagnosis/Relapse tests
  • V(D)J Clonotype detection by NGS.
  • Mutational screening using a targeted NGS panel.
  • Mutational screening by whole exome sequencing.
  • Mutational screening in liquid biopsy using a capture-based targeted panel.
  • Transcriptome profiling using RNA-seq.
  • Gene expression analysis by RT-PCR.
Minimal Residual Disease (MRD) tests
  • MRDeep: MRD assesment by V(D)J clonotypes detection in bone marrow by NGS.
  • CloneSight-MM: MRD assesment in liquid biopsy by personalized tumor biomarkers monitoring using NGS.

Clinical next-generation sequencing (NGS) technology has enabled a deeper and more detailed evaluation of MM genetics.

Testing allows for further risk categorization of the disease by identifying additional abnormalities in the prognosis of potential therapeutic value. Assessed minimal residual disease (MRD) after treatment by NGS to detect mutated IGH and IGK gene rearrangements has been included as a Response Criteria by the International Myeloma Working Group and incorporated into the National Comprehensive Cancer Network (NCCN) guidelines. Moreover, the European Medicines Agency (EMA) and the American Federal Drug Administration (FDA) have suggested the use of MRD monitoring as a clinical endpoint in clinical trials and recommends the inclusion of MRD assessment in ongoing and future trials.