B-cell lymphoma mutations: improving diagnostics and enabling targeted therapies
José P. Vaqué,
Nerea Martínez,
Ana Batlle-López,
Cristina Pérez,
Santiago Montes-Moreno,
Margarita Sánchez-Beato,
Miguel A. Piris
Affiliations
José P. Vaqué
Cancer Genomics Laboratory, Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain
Nerea Martínez
Cancer Genomics Laboratory, Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain
Ana Batlle-López
Servicio de Anatomía Patológica and Hematologia, Hospital Universitario Marqués de Valdecilla (HUMV), Santander, Spain
Cristina Pérez
Cancer Genomics Laboratory, Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain
Santiago Montes-Moreno
Cancer Genomics Laboratory, Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain;Servicio de Anatomía Patológica and Hematologia, Hospital Universitario Marqués de Valdecilla (HUMV), Santander, Spain
Margarita Sánchez-Beato
Instituto Investigación Sanitaria Hospital Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain
Miguel A. Piris
Cancer Genomics Laboratory, Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain;Servicio de Anatomía Patológica and Hematologia, Hospital Universitario Marqués de Valdecilla (HUMV), Santander, Spain
B-cell lymphomas comprise an increasing number of clinicopathological entities whose characterization has historically been based mainly on histopathological features. In recent decades, the analysis of chromosomal aberrations as well as gene and miRNA expression profile studies have helped distinguish particular tumor types and also enabled the detection of a number of targets with therapeutic implications, such as those activated downstream of the B-cell receptor. Our ability to identify the mechanisms involved in B-cell lymphoma pathogenesis has been boosted recently through the use of Next Generation Sequencing techniques in the analysis of human cancer. This work summarizes the recent findings in the molecular pathogenesis of B-cell neoplasms with special focus on those clinically relevant somatic mutations with the potential to be explored as candidates for the development of new targeted therapies. Our work includes a comparison between the mutational indexes and ranges observed in B-cell lymphomas and also with other solid tumors and describes the most striking mutational data for the major B-cell neoplasms. This review describes a highly dynamic field that currently offers many opportunities for personalized therapy, although there is still much to be gained from the further molecular characterization of these clinicopathological entities.