Burkitt lymphoma

Abstract

Burkitt lymphoma (BL) is an uncommon mature B cell non-Hodgkin lymphoma (NHL) characterized by aggressive clinical behavior with high survival rates among children and young adults. Three different variants are well recognized which differ in epidemiology, clinical presentation, and molecular or biological features. Endemic, sporadic and immunodeficiency-associated are these BL epidemiological forms. The genetic hallmark is the rearrangement of the MYC oncogene, virtually presented in all BL cases. Translocation with the immunoglobulin heavy chain gene region, t(8;14)(q24;q32), is the most frequent (80%). Recently, promising findings by RNA sequencing studies have expanded the molecular landscape with the identification of novel genes probably involved in its pathogenesis. Mutations in the transcription factor TCF3 or ID3 (its negative regulator) have been described in endemic, sporadic, and immunodeficiency-associated BL. Clinical presentation differs according to the epidemiologic variants with nodal and extranodal involvement (central nervous system, bone marrow, gastrointestinal tract). Tumor lysis syndrome, before or after treatment, is frequent because of the massive proliferation rate of BL, being mandatory an appropriate prophylaxis. Initial chemotherapy approaches were based on acute lymphoblastic leukemia intensive pediatrics regimens showing high efficacy in young patients while significant toxicity in older and immunocompromised patients. Addition of anti CD20 therapy to chemotherapy improved previous outcomes becoming the standard of care in BL. Optimize chemotherapy regimens to decrease toxicity, relapsed/refractory approaches, and incorporate biological findings on treatment are the main goal of the new era of BL management. In this chapter, we will describe the main aspects of this entity, focusing on the pathobiology and the treatment both, in the first-line and relapsed/refractory cases, besides describing the new therapeutic strategies, which in the long term, could improve the results in this pathology.