Vikova V, Jourdan M, Robert N, Requirand G, Boireau S, Bruyer A, Vincent L, Cartron G, Klein B, Elemento O, Kassambara A, Moreaux J. Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance. Theranostics. 2019. Download the PDF
Summary of the Study
This study performed the first comprehensive whole exome sequencing analysis on a panel of 30 human multiple myeloma cell lines (HMCLs), aiming to map the mutational landscape and uncover its relationship with drug response and tumor progression.
- Identified 236 protein-coding genes with structure-altering mutations
- Frequently mutated MM driver genes included TP53, KRAS, NRAS, ATM, FAM46C
- Novel candidate genes discovered: CNOT3, KMT2D, MSH3, PMS1
Pathway-level insights revealed mutations in:
- MAPK, JAK-STAT, PI3K-AKT, TP53/cell cycle, DNA repair, and chromatin modifier pathways
Linking genomic data with drug response:
- Mutations were associated with resistance or sensitivity to conventional agents and targeted inhibitors
In this study, Alboukadel Kassambara was co–last author, supervising the work of the first author. He contributed significantly to data analysis and visualization, helping guide interpretation of the mutational landscape and its link with drug response.
Citation
Publication: In Theranostics
Date: January 1, 2019
Type: Journal Article
PDF: Download the PDF
Scientific Contributions
Here are more scientific abstracts authored or co-authored by Alboukadel Kassambara. These contributions span computational biology, bioinformatics, biostatistics, machine learning, and multi-omics, with a focus on immuno-oncology and translational research.
