Advances in the role of cytogenetic analysis in the molecular diagnosis of B-cell lymphomas

Expert Rev Mol Diagn. 2017 Jun;17(6):623-632. doi: 10.1080/14737159.2017.1327811. Epub 2017 May 15.


Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision. Expert commentary: Cytogenetics remains an essential analysis for the diagnostic work-up of lymphomas. As whole genome sequencing becomes more and more affordable routinely, the next challenge will be to recover all the information conveyed by conventional karyotype, including the analysis of the clonal architecture at the single cell level, in whole genome data.

Keywords: B-cell lymphomas; cytogenetic abnormalities; cytogenetic techniques; cytogenetics; diagnosis.

Publication types

  • Review

MeSH terms

  • Cytogenetic Analysis / methods*
  • Cytogenetic Analysis / standards
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Lymphoma, B-Cell / diagnosis*
  • Lymphoma, B-Cell / genetics
  • Whole Genome Sequencing / methods*
  • Whole Genome Sequencing / standards