Guiding the global evolution of cytogenetic testing for hematologic malignancies.

Autor:	Akkari YMN; Departments of Cytogenetics and Molecular Pathology, Legacy Health, Portland, OR., Baughn LB; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Dubuc AM; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Smith AC; Laboratory Medicine Program, University Health Network and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada., Mallo M; MDS Group, Microarrays Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Spain., Dal Cin P; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Diez Campelo M; Hematology Department University Hospital of Salamanca, IBSAL, Salamanca, Spain., Gallego MS; Laboratory of Cytogenetics and Molecular Cytogenetics, Department of Clinical Pathology, Italian Hospital, Buenos Aires, Argentina., Granada Font I; Hematology Laboratory, Germans Trias i Pujol University Hospital-Catalan Institute of Oncology, Josep Carreras Leukemia Research Institute, Barcelona, Spain., Haase DT; Clinics of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany., Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Slavutsky I; Laboratory Genetics of Lymphoid Malignancies, Institute of Experimental Medicine, Buenos Aires, Argentina., Mecucci C; Laboratory of Cytogenetics and Molecular Medicine, Hematology University of Perugia, Perugia, Italy., Levine RL; Department of Medicine, Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY., Hasserjian RP; Department of Pathology, Massachusetts General Hospital, Boston, MA; and., Solé F; MDS Group, Microarrays Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Spain., Levy B; College of Physicians and Surgeons, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY., Xu X; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Jazyk:	angličtina
Zdroj:	Blood [Blood] 2022 Apr 14; Vol. 139 (15), pp. 2273-2284.
DOI:	10.1182/blood.2021014309
Abstrakt:	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. (© 2022 by The American Society of Hematology.)
Databáze:	MEDLINE
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