Plasma Cell Enrichment and New Genomic Approaches in Multiple Myeloma: A Scoping Review.

Background: Multiple myeloma (MM) is a genetically heterogeneous disease where specific genetic abnormalities have a significant impact on a patient's prognosis. Diagnostic and prognostic tools like fluorescence in situ hybridization (FISH), PCR, microarrays, and next-generation sequencing (NGS) have transformed MM management. However, the effectiveness of these techniques is often limited by the low concentration of plasma cells in bone marrow samples, which makes enrichment methods necessary. This review aims to clarify how these techniques enhance the detection of genetic abnormalities, reduce false-negative results, and facilitate more precise risk stratification for MM patients.

Content: Following Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Review (PRISMA-ScR) guidelines, the literature on plasma cell separation methods used in genetic studies of MM was systematically identified and mapped. Searches were conducted in the Medline and Embase databases using a structured strategy, supplemented by manual searches on Google Scholar. Of 399 publications evaluated, 69 met the inclusion criteria; 37% utilized FISH and 19% demonstrated an increasing use of NGS. Plasma cell enrichment significantly improved diagnostic accuracy, increasing the detection rates of genetic abnormalities from 61% in non-enriched samples to 95.5% in enriched samples. While FISH remains the gold standard, emerging technologies such as NGS offer superior sensitivity and the ability to identify critical genetic alterations to refine molecular subtypes.

Summary: Clinically significant genetic alterations are detected more frequently with plasma cell enrichment techniques, contributing to improved prognosis and treatment strategies for MM patients.