Researchers have used deep whole-genome sequencing (WGS) to identify genomic markers of a “good-risk” group of patients with multiple myeloma with prolonged survival. Specifically, patients found to have a low genomic scar score and chromosome 9 gain had superior outcomes.
In the study, researchers analyzed WGS data from a 2009 study from 183 patients with newly diagnosed myeloma who had been treated with lenalidomide, bortezomib, and dexamethasone alone or in combination with autologous stem cell transplant. These data were then integrated with clinical data.
The researchers calculated a genomic scar score (GSS) using allele-specific copy-number alterations. Patients with a total score of 5 or less were considered to have a low GSS.
On average, WGS identified 7343 single nucleotide variants, 235 small insertions, and 376 deletions per patient. Significant variations in mutational load were found, with hyperdiploid myeloma having the lowest and t(14;16) myeloma having the highest load (P =.004).