A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma

DSpace/Manakin Repository

A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma

Citable link to this page

 

 
Title: A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma
Author: Bolli, N; Li, Y; Sathiaseelan, V; Raine, K; Jones, D; Ganly, P; Cocito, F; Bignell, G; Chapman, M A; Sperling, A S; Anderson, K C; Avet-Loiseau, H; Minvielle, S; Campbell, P J; Munshi, N C

Note: Order does not necessarily reflect citation order of authors.

Citation: Bolli, N., Y. Li, V. Sathiaseelan, K. Raine, D. Jones, P. Ganly, F. Cocito, et al. 2016. “A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma.” Blood Cancer Journal 6 (9): e467. doi:10.1038/bcj.2016.72. http://dx.doi.org/10.1038/bcj.2016.72.
Full Text & Related Files:
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.
Published Version: doi:10.1038/bcj.2016.72
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056967/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:29408186
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters