Genetic Profiling in Diffuse Large B-Cell Lymphoma: The Promise and the Challenge

Abstract

Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma. Over the previous 2 decades, tremendous progress has been made in our understanding of the molecular pathogenesis of DLBCL. However, this biological understanding has not yet been translated into improved first-line therapy. A major barrier to the introduction of molecularly targeted therapy in DLBCL is the considerable molecular heterogeneity of this disease. Recent studies have tried to rationalize this heterogeneity by proposing new genetic subtypes of DLBCL. Although remarkable consensus exists over the broad nature of these genetic subtypes, important questions remain over precisely how, or even why, genetic subtyping might be incorporated into diagnostic laboratories. In this review, we compare the findings of the major genetic subtyping studies and discuss the implications this may have for diagnostic pathology services and the management of DLBCL.

Keywords: cancer genetics; hematological cancer; lymphoma.