Molecular Diagnostics of Plasma Cell Neoplasms

Megan J Fitzpatrick; Mandakolathur R Murali; Valentina Nardi

doi:10.1016/j.path.2023.01.005

Molecular Diagnostics of Plasma Cell Neoplasms

Surg Pathol Clin. 2023 Jun;16(2):401-410. doi: 10.1016/j.path.2023.01.005. Epub 2023 Mar 10.

Authors

Megan J Fitzpatrick¹, Mandakolathur R Murali², Valentina Nardi³

Affiliations

¹ Hospital Pathology Associates, 2800 10th Avenue South, Suite 2200, Minneapolis, MN 55407, USA.
² Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA; Division of Rheumatology, Allergy and Immunology, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
³ Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Warren 820A, Boston, MA 02114, USA. Electronic address: vnardi@partners.org.

PMID: 37149365
DOI: 10.1016/j.path.2023.01.005

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.

Publication types

Review

MeSH terms

Flow Cytometry
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Multiple Myeloma* / diagnosis
Multiple Myeloma* / genetics
Neoplasm, Residual / diagnosis
Neoplasm, Residual / genetics
Neoplasm, Residual / pathology
Pathology, Molecular
Plasmacytoma*
Prognosis