Molecular Diagnostics of Plasma Cell Neoplasms

Abstract

Genetic characterization of myeloma at diagnosis by interphase fluorescence in situ hybridization and next-generation sequencing (NGS) can assist with risk stratification and treatment planning. Measurable residual disease (MRD) status after treatment, as evaluated by next-generation flow cytometry or NGS on bone marrow aspirate material, is one of the most important predictors of prognosis. Less-invasive tools for MRD assessment such as liquid biopsy approaches have also recently emerged as potential alternatives.

Keywords: Cell-free DNA; Circulating tumor cells; Flow cytometry; Mass spectrometry; Myeloma; Next-generation sequencing; Plasma cell.