ABSTRACT

Introduction 352 Lymphoid-specific events in the generation of 354

chromosomal translocations The role of RAG1/2 in chromosomal breakpoints 354 The role of activation-induced cytidine deaminase 356

in chromosomal breakpoints

DNA repair and the generation of chromosomal 357 translocations

Key points 358 References 358

Recurrent chromosomal translocations in lymphoid malignancies are found in a minority of precursor T cell acute lymphoblastic leukemia (T-ALL) and precursor B cell ALL (B-ALL) and in approximately 40 percent of all mature B cell lymphomas and multiple myeloma. In some B cell lymphomas such as mantle cell lymphoma, specific translocations are highly characteristic, and can be considered as a diagnostic criterion of the disease. In this chapter the most important mechanisms that are involved in chromosomal translocations will be described. Three different molecular configurations of chromosomal translocations with different oncogenic effects can be recognized.