Clinical Potential of Copy Number Aberration as a Diagnostic and Prognostic Biomarker in Lymphoma

Lymphoma is a highly heterogeneous malignancy, demanding accurate and precise diagnosis to guide the selection of the appropriate treatment for optimal outcome. Copy number aberration (CNA) has been suggested to play an important role in the occurrence and development of lymphoma and thus can be explored as biomarker to improve disease management. It is believed that CNAs in variable forms and complexities can be triggered by both exogenous (eg viral infection and ionizing radiation) and endogenous factors (eg genetic predisposition and evolutionary forces). However, conventional cytogenetic methods have limitations to detect all types of CNAs with accuracy and adequate details. The emergence of new technologies, including fluorescence in situ hybridization (FISH), chromosome microarray analysis (CMA), and especially next-generation sequencing (NGS) has made significant progress in the identification and characterization of CNAs or CNA-related genomic aberrations. Accumulating data addressing molecular insights and clinical implications have provided us more theoretical and experimental support for its clinical translation. Currently, while only limited number of CNAs or CNA-related genomic variation, such as deletion/amplification of DNA segments, have been documented in major guidelines or consensus for their clinical potential in lymphoma, more CNAs remain to be further characterized and/or discovered for their clinical relevance. Taking together, with available and upcoming evidence, CNA should play an important role as a diagnostic and prognostic biomarker while integrated with the current settings in lymphoma.