Minimal residual disease (MRD) detection has a powerful prognostic relevance for response evaluation and prediction of relapse in hematological malignancies. Real-time quantitative PCR (qPCR) has become the settled and standardized method for MRD assessment in lymphoid disorders. However, qPCR is a relative quantification approach, since it requires a reference standard curve. Droplet digital™ PCR (ddPCR™) allows a reliable absolute tumor burden quantification withdrawing the need for preparing, for each experiment, a tumor-specific standard curve. We have recently shown that ddPCR has a good concordance with qPCR and could be a feasible and reliable tool for MRD monitoring in mature lymphoproliferative disorders. In this chapter we describe the experimental workflow, from the detection of the clonal molecular marker to the MRD monitoring by ddPCR, in patients affected by multiple myeloma, mantle cell lymphoma and follicular lymphoma. However, standardization programs among different laboratories are needed in order to ensure the reliability and reproducibility of ddPCR-based MRD results.

Droplet digital PCR for minimal residual disease detection in mature lymphoproliferative disorders

Drandi D.;Ferrero S.;Ladetto M.
2018

Abstract

Minimal residual disease (MRD) detection has a powerful prognostic relevance for response evaluation and prediction of relapse in hematological malignancies. Real-time quantitative PCR (qPCR) has become the settled and standardized method for MRD assessment in lymphoid disorders. However, qPCR is a relative quantification approach, since it requires a reference standard curve. Droplet digital™ PCR (ddPCR™) allows a reliable absolute tumor burden quantification withdrawing the need for preparing, for each experiment, a tumor-specific standard curve. We have recently shown that ddPCR has a good concordance with qPCR and could be a feasible and reliable tool for MRD monitoring in mature lymphoproliferative disorders. In this chapter we describe the experimental workflow, from the detection of the clonal molecular marker to the MRD monitoring by ddPCR, in patients affected by multiple myeloma, mantle cell lymphoma and follicular lymphoma. However, standardization programs among different laboratories are needed in order to ensure the reliability and reproducibility of ddPCR-based MRD results.
Methods in Molecular Biology
Humana Press Inc.
1768
229
256
978-1-4939-7776-5
978-1-4939-7778-9
http://www.springer.com/series/7651
BCL1/IGH; BCL2/IGH; Droplet digital PCR; Follicular lymphoma (FL); Immunoglobulin heavy-chain gene (IGH); Mantle cell lymphoma (MCL); Minimal residual disease (MRD); Multiple myeloma (MM); T(11;14) translocation; T(14;18) translocation; Biomarkers, Tumor; Bone Marrow; Cyclin D1; Gene Rearrangement; Humans; Immunoglobulin Heavy Chains; Lymphoproliferative Disorders; Neoplasm, Residual; Oncogene Proteins, Fusion; Polymerase Chain Reaction; Proto-Oncogene Proteins c-bcl-2; Reference Standards; Translocation, Genetic; Tumor Burden
Drandi D.; Ferrero S.; Ladetto M.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1728889
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