Guiding the global evolution of cytogenetic testing for hematologic malignancies

Yassmine M.N. Akkari, Linda B. Baughn, Adrian M. Dubuc, Adam C. Smith, Mar Mallo, Paola Dal Cin, Maria Diez Campelo, Marta S. Gallego, Isabel Granada Font, Detlef T. Haase, Brigitte Schlegelberger, Irma Slavutsky, Cristina Mecucci, Ross L. Levine, Robert P. Hasserjian, Francesc Solé, Brynn Levy, Xinjie Xu

Research output: Contribution to journalArticlepeer-review


Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variation, which have been shown to drive tumorigenesis, define diseases, and guide treatment. Technological innovations in sequencing have ushered in our present-day clinical genomics era. With recent publications highlighting novel sequencing technologies as alternatives to conventional cytogenetic approaches, we, an international consortium of laboratory geneticists, pathologists, and oncologists, describe herein the advantages and limitations of both conventional chromosome banding and novel sequencing technologies and share our considerations on crucial next steps to implement these novel technologies in the global clinical setting for a more accurate cytogenetic evaluation, which may provide improved diagnosis and treatment management. Considering the clinical, logistic, technical, and financial implications, we provide points to consider for the global evolution of cytogenetic testing.

Original languageEnglish (US)
Pages (from-to)2273-2284
Number of pages12
Issue number15
StatePublished - Apr 14 2022

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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