ArticleBlood cancer journal2016
A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma.
Article in Blood cancer journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 76 citations in OpenAlex.
- Isatuximab, lenalidomide, dexamethasone and bortezomib in transplant-ineligible multiple myeloma: the randomized phase 3 BENEFIT trial.Nature medicine · 2024Trial
- Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.Haematologica · 2018Trial
- Longitudinal assessments of MRD in high-risk newly diagnosed transplant-ineligible multiple myeloma in the BENEFIT study (IFM2020-05).HemaSphere · 2026Article
- Article
- The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance.Molecular diagnosis & therapy · 2026Review
- Article
- Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selection.Blood advances · 2026Article
- DIS3 licenses B cells for plasma cell differentiation in humans.Cellular & molecular immunology · 2026Article
- Unique molecular assay (UMA): a next-generation sequencing targeted panel for efficient and comprehensive genomic profiling and risk stratification of multiple myeloma.Haematologica · 2025Article
- Article
- Article
- Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma: a report of the Cancer Genomics Consortium Plasma Cell Neoplasm Working Group.Blood cancer journal · 2025Review
- Fishing for 1q gain is now open in amyloidosis.Blood · 2024Article
- Review
- Article
- Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.Leukemia · 2024Article
- Whole-exome sequencing is feasible on a fresh-frozen skin sample of intravascular large B cell lymphoma.Clinical and experimental medicine · 2024Article
- Article
- Myeloma immunoglobulin rearrangement and translocation detection through targeted capture sequencing.Life science alliance · 2023Article
- Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.Biomedicines · 2022Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 5 countries.
Funding
Abstract
Genomic lesions are not investigated during routine diagnostic workup for multiple myeloma (MM). Cytogenetic studies are performed to assess prognosis but with limited impact on therapeutic decisions. Recently, several recurrently mutated genes have been described, but their clinical value remains to be defined. Therefore, clinical-grade strategies to investigate the genomic landscape of myeloma samples are needed to integrate new and old prognostic markers. We developed a target-enrichment strategy followed by next-generation sequencing (NGS) to streamline simultaneous analysis of gene mutations, copy number changes and immunoglobulin heavy chain (IGH) translocations in MM in a high-throughput manner, and validated it in a panel of cell lines. We identified 548 likely oncogenic mutations in 182 genes. By integrating published data sets of NGS in MM, we retrieved a list of genes with significant relevance to myeloma and found that the mutational spectrum of primary samples and MM cell lines is partially overlapping. Gains and losses of chromosomes, chromosomal segments and gene loci were identified with accuracy comparable to conventional arrays, allowing identification of lesions with known prognostic significance. Furthermore, we identified IGH translocations with high positive and negative predictive value. Our approach could allow the identification of novel biomarkers with clinical relevance in myeloma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.