TY - JOUR
T1 - Guiding the global evolution of cytogenetic testing for hematologic malignancies
AU - Akkari, Yassmine M.N.
AU - Baughn, Linda B.
AU - Dubuc, Adrian M.
AU - Smith, Adam C.
AU - Mallo, Mar
AU - Dal Cin, Paola
AU - Diez Campelo, Maria
AU - Gallego, Marta S.
AU - Granada Font, Isabel
AU - Haase, Detlef T.
AU - Schlegelberger, Brigitte
AU - Slavutsky, Irma
AU - Mecucci, Cristina
AU - Levine, Ross L.
AU - Hasserjian, Robert P.
AU - Solé, Francesc
AU - Levy, Brynn
AU - Xu, Xinjie
N1 - Publisher Copyright:
© 2022 American Society of Hematology
PY - 2022/4/14
Y1 - 2022/4/14
N2 - 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.
AB - 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.
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U2 - 10.1182/blood.2021014309
DO - 10.1182/blood.2021014309
M3 - Article
C2 - 35167654
AN - SCOPUS:85128489333
SN - 0006-4971
VL - 139
SP - 2273
EP - 2284
JO - Blood
JF - Blood
IS - 15
ER -