Recurrent Cytogenetic Abnormalities in Non-Hodgkin's Lymphoma and Chronic Lymphocytic Leukemia

Methods Mol Biol. 2017:1541:279-293. doi: 10.1007/978-1-4939-6703-2_22.


Characteristic chromosomal translocations are found to be associated with subtypes of B-cell non-Hodgkin lymphoma (NHL), for example t(8;14)(q24;q32) and Burkitt lymphoma, t(14;18)(q32;q21) and follicular lymphoma, and t(11;14)(q13;q32) in mantle cell lymphoma. Only few recurrent cytogenetic aberrations have been identified in the T-cell NHL and the best known is the ALK gene translocation t(2;5)(p23;q35) in anaplastic large cell lymphoma. Since lymph node or other tissue is seldom submitted for conventional cytogenetics study, alternative approaches for translocation detection are polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH). FISH is more sensitive than PCR in the detection of lymphoma translocations since directly labeled large FISH probes that span the translocation breakpoints are used. Although the recurrent chromosomal abnormalities in NHL are not completely sensitive and specific for disease entities, unlike the scenario in acute leukemia, cytogenetic and molecular genetic study is commonly used to aid lymphoma diagnosis and classification. Currently, the main clinical utility is in the employment of interphase FISH panels to predict disease aggressiveness to guide therapy, for example identification of double-hit lymphoma, or in prognostication, for example risk-stratification in chronic lymphocytic leukemia. The recent application of high-throughput sequencing to NHL not only advances the understanding of disease pathogenesis and classification, but allows the discovery of new drug targets, such as BRAF gene inhibition in hairy cell leukemia. Coupled with the increasing availability of novel molecular targeted therapeutic agents, the hope for the future is to translate the genetics and genomics information to achieve personalized medicine in NHL.

Keywords: Chromosomal translocation; Classification; Cytogenetics; Diagnosis; FISH; Molecular targeted therapy; Non-Hodgkin lymphoma; PCR; Personalized medicine; Prognosis.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / diagnosis*
  • Leukemia, Lymphocytic, Chronic, B-Cell / drug therapy
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / mortality
  • Lymphoma, Non-Hodgkin / diagnosis*
  • Lymphoma, Non-Hodgkin / genetics*
  • Molecular Targeted Therapy
  • Oncogene Proteins, Fusion / genetics
  • Prognosis
  • Translocation, Genetic


  • Oncogene Proteins, Fusion