Work

Baseline VDJ clonotype detection using a targeted sequencing NGS assay: allowing for subsequent MRD assessment

Year: 2020

Type: article

Abstract: Fluorescent in situ hybridization (FISH), metaphase cytogenetics, and single nucleotide polymorphism (SNP) microarray have long been the standard assays for disease diagnostics and subtyping of multiple myeloma. With the advent of next generation sequencing (NGS), our understanding of the genomic landscape in multiple myeloma has been expanded. Recent data show that NGS-based myeloma-targeted assays can identify immunoglobulin heavy chain ( IGH ) translocations, copy number alterations, as well as somatic mutations 1 . Comprehensive genomic profiling of multiple myeloma is becoming increasingly important for individual risk stratification and therapeutic guidance 2 . Therefore, NGS-based myeloma-targeted assays will gradually replace current standard methods in clinical practice.

Source: Blood Cancer Journal

DOI: 10.1038/s41408-020-00343-w