Dr. Elías Campo comments for Nature Genetics two innovative works about the genomics of Burkitt lymphoma

Burkitt lymphoma is an aggressive B-cell neoplasm initially recognized by Dennis Burkitt, a prescient surgeon working in Uganda in the middle years of the last century. Two studies in the last issue of Nature Genetics identify the landscape of somatic mutations in Burkitt lymphoma and highlight the pathogenic and clinical relevance of inactivating mutations of ID3. Dr. Elías Campo, Research Director of the Hospital Clínic of Barcelona and Director of the Fundació Clínic, writes a news article in the same issue about this two works, in a section called News and Views. The IDIBAPS team he leads, Human and experimental functional oncomorphology, knows well about genetics of such diseases, as he is the co-director of the Chronic Lymphocytic Leukemia (CLL) Genome Project.

Using integrative structural and functional genomics, these new studies have provided the first catalogue of somatic mutations in Burkitt lymphoma, thus identifying new oncogenic pathways and mutated genes, some of which were virtually unknown in cancer. These findings also have clinical relevance, providing elements for refined diagnosis and new therapeutic strategies. Further studies are needed to clarify the distribution of the identified mutations and their relationship with the Epstein-Barr virus infection.

Writing a News and Views for Nature Genetics is a result of the impact of innovative works led by Dr. Elías Campo and his team in the field of Chronic Lymphocytic Leukemia. The results obtained in the CLL Genome Project offer a new perspective on cancer research, integrating the results of the complete sequencing of the genome and epigenome of patients with leukemia. This research program, co-directed by Dr. Carlos López-Ortín from the Universidad de Oviedo, has already been able to identify the cells that cause the disease, discover new molecular mechanisms involved in its development and improve its diagnosis.