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 - Funding Information:
For myeloid malignancies, chromosome banding and FISH can be used to detect the majority of the CNVs and SVs needed for appropriate clinical management. 14,39-41 The high success rate at identifying acute myeloid leukemia (AML)-specific abnormalities reflects the ability of myeloid cells to divide readily in culture. 42,43 Of 250 adult AML cases with concurrent chromosome banding and FISH testing, a successful karyotype result (defined as having ≥20 sufficiently analyzable metaphases) was attained in 88% of cases, 10% of cases had between 1 and 19 metaphases, and only 2% of cases had no metaphases for analysis. 44 Supplementation by AML-directed FISH yielded a 98% concordance between chromosome and FISH analysis (in cases with an adequate chromosome study). 44 Such evidence-based studies provided the foundation for the clinical guidelines supported by the European LeukemiaNet (ELN) ( www.leukemia-net.org/home ), the National Comprehensive Cancer Network (NCCN) ( www.nccn.org ), and the Revised International Prognostic Scoring System (IPSS-R) ( www.mds-foundation.org ). 5,20,21,44-47
Funding Information:
Supported by National Cancer Institute grant P01 CA108671 11 (R.L.L.).
Funding Information:
The authors thank Jill Kappers from the Mayo Clinic for providing administrative assistance in the preparation of this document. Supported by National Cancer Institute grant P01 CA108671 11 (R.L.L.).
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
VL - 139
SP - 2273
EP - 2284
JO - Blood
JF - Blood
SN - 0006-4971
IS - 15
ER -