Guiding the global evolution of cytogenetic testing for hematologic malignancies. Academic Article uri icon

Overview

abstract

  • 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.

publication date

  • April 14, 2022

Research

keywords

  • Hematologic Neoplasms

Identity

PubMed Central ID

  • PMC9710485

Scopus Document Identifier

  • 85128489333

Digital Object Identifier (DOI)

  • 10.1182/blood.2021014309

PubMed ID

  • 35167654

Additional Document Info

volume

  • 139

issue

  • 15