Genomic characterisation of multiple myeloma: study of a Portuguese cohort

J Clin Pathol. 2022 Jun;75(6):422-425. doi: 10.1136/jclinpath-2020-207204. Epub 2021 Mar 2.

Abstract

Multiple myeloma (MM) genomic complexity reflects in the variable patients' clinical presentation. Genome-wide studies seem to be a reasonable alternative to identify critical genomic lesions. In the current study, we have performed the genomic characterisation of a Portuguese cohort of patients with MM by array comparative genomic hybridisation. Overall, the most frequently detected alterations were 13q deletions, gains of 1q, 19p, 15q, 5p and 7p and trisomy 9. Even though some identified genomic alterations were previously associated with a prognostic value, other abnormalities remain with unknown, but putative significance for patients' clinical practice. These genomic alterations should be further assessed as possible biomarkers.

Keywords: biomarkers; microarray analysis; multiple myeloma; tumour.

MeSH terms

  • Chromosome Aberrations
  • Chromosome Deletion
  • Genomics
  • Humans
  • Multiple Myeloma* / diagnosis
  • Multiple Myeloma* / genetics
  • Portugal
  • Trisomy