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Updated: Jul 31, 2025
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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Molecular Diagnostics of Plasma Cell Neoplasms
Megan J Fitzpatrick1, Mandakolathur R Murali2, Valentina Nardi3
1Hospital Pathology Associates, 2800 10th Avenue South, Suite 2200, Minneapolis, MN 55407, USA.
Surgical Pathology Clinics
|May 6, 2023
Summary
Genetic testing in myeloma aids risk assessment and treatment. Post-treatment measurable residual disease (MRD) monitoring, using methods like next-generation sequencing (NGS), is crucial for prognosis, with liquid biopsies offering a less invasive option.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Genetic characterization of myeloma at diagnosis is vital for risk stratification and treatment planning.
- Measurable residual disease (MRD) assessment post-treatment is a key prognostic factor.
- Current MRD evaluation methods include bone marrow aspirate analysis via next-generation flow cytometry or NGS.
Purpose of the Study:
- To highlight the role of genetic characterization in myeloma.
- To emphasize the prognostic significance of MRD status.
- To introduce emerging less-invasive MRD assessment tools.
Main Methods:
- Interphase fluorescence in situ hybridization (FISH) for genetic characterization.
- Next-generation sequencing (NGS) for genetic profiling and MRD assessment.
- Next-generation flow cytometry for MRD evaluation.
Main Results:
- Genetic profiling at diagnosis aids in stratifying myeloma patients.
- MRD status post-therapy is a critical predictor of patient outcomes.
- Liquid biopsy represents a promising, less invasive approach for MRD detection.
Conclusions:
- Comprehensive genetic analysis at diagnosis improves myeloma management.
- Accurate MRD assessment is essential for predicting prognosis in myeloma patients.
- Liquid biopsy technologies offer a potential advancement in MRD monitoring for myeloma.
