Molecular profiling of multiple myeloma: From gene expression analysis to next-generation sequencing

Luca Agnelli, Pierfrancesco Tassone, Antonino Neri

Research output: Contribution to journalArticlepeer-review


Introduction: Multiple myeloma is a fatal malignant proliferation of clonal bone marrow Ig-secreting plasma cells, characterized by wide clinical, biological, and molecular heterogeneity. Areas covered: Herein, global gene and microRNA expression, genome-wide DNA profilings, and next-generation sequencing technology used to investigate the genomic alterations underlying the bio-clinical heterogeneity in multiple myeloma are discussed. Expert opinion: High-throughput technologies have undoubtedly allowed a better comprehension of the molecular basis of the disease, a fine stratification, and early identification of high-risk patients, and have provided insights toward targeted therapy studies. However, such technologies are at risk of being affected by laboratory-or cohort-specific biases, and are moreover influenced by high number of expected false positives. This aspect has a major weight in myeloma, which is characterized by large molecular heterogeneity. Therefore, meta-analysis as well as multiple approaches are desirable if not mandatory to validate the results obtained, in line with commonly accepted recommendation for tumor diagnostic/prognostic biomarker studies.

Original languageEnglish
JournalExpert Opinion on Biological Therapy
Issue numberSUPPL.1
Publication statusPublished - Jun 2013


  • Gene expression profiling
  • MicroRNA
  • Multiple myeloma
  • Next-generation sequencing
  • Noncoding RNA
  • SNP-array genotyping

ASJC Scopus subject areas

  • Pharmacology
  • Clinical Biochemistry
  • Drug Discovery


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