Evolution of Lymphoma Diagnosis in the Era of Personalized Medicine: A Marriage of Pathology and Genomics for Clinical Practice

The modern taxonomy of disease builds a framework for precision medicine, by which traditional pathologic criteria are integrated with clinical and genomic features to define disease entities. Two of the most common subtypes of lymphoma on a worldwide basis are follicular lymphoma (FL) and diffuse large B-cell lymphoma. Although BCL2 translocation is the signature lesion of most nodal FL, recent studies have identified significant diversity among follicle center-derived lesions. BCL2-negative FL is a genetically heterogeneous disease that occurs in both nodal and extranodal sites. Several distinct entities have been recognized in the pediatric age group, including pediatric-type FL, testicular FL, and interferon regulatory factor 4 (IRF4)-rearranged large B-cell lymphoma. Diffuse large B-cell lymphoma is a family of aggressive B-cell neoplasms with marked variation in pathogenesis and clinical features. Gene expression profiling >20 years ago identified the cell of origin as a key discriminator, but more recently high-throughput sequencing has identified highly varied mutational profiles that point the way in the future toward improvements in targeted therapy and patient outcome.

Automated summary

The modern taxonomy of disease provides a framework for precision medicine that integrates traditional pathologic criteria with clinical and genomic features. Follicular lymphoma (FL) and diffuse large B-cell lymphoma are the two most common subtypes of lymphoma worldwide. Recent studies have revealed significant diversity among follicle center-derived lesions, and diffuse large B-cell lymphoma is a family of aggressive B-cell neoplasms with varied pathogenesis and clinical features. High-throughput sequencing has identified diverse mutational profiles that can guide targeted therapy and improve patient outcomes in the future.