Guiding the global evolution of cytogenetic testing for hematologic malignancies.
Journal
Blood
ISSN: 1528-0020
Titre abrégé: Blood
Pays: United States
ID NLM: 7603509
Informations de publication
Date de publication:
14 04 2022
14 04 2022
Historique:
received:
03
10
2021
accepted:
03
02
2022
pubmed:
16
2
2022
medline:
19
4
2022
entrez:
15
2
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35167654
pii: S0006-4971(22)00210-5
doi: 10.1182/blood.2021014309
pmc: PMC9710485
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2273-2284Informations de copyright
© 2022 by The American Society of Hematology.
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