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

Abstract

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.

Keywords::

• gene expression profiling
• microRNA
• multiple myeloma
• next-generation sequencing
• noncoding RNA
• SNP-array genotyping

Acknowledgments

The authors acknowledge the Associazione Italiana Ricerca sul Cancro (AIRC) for the support to the current research (grant 5xmille #9980 2010-15 to AN and PT, and AIRC grant IG10136 to A Neri).

Notes

This box summarizes key points contained in the article.