Guiding the global evolution of cytogenetic testing for hematologic malignancies

Author:

Akkari Yassmine M. N.1ORCID,Baughn Linda B.2ORCID,Dubuc Adrian M.3,Smith Adam C.4ORCID,Mallo Mar5ORCID,Dal Cin Paola3ORCID,Diez Campelo Maria6ORCID,Gallego Marta S.7,Granada Font Isabel8ORCID,Haase Detlef T.9,Schlegelberger Brigitte10ORCID,Slavutsky Irma11ORCID,Mecucci Cristina12ORCID,Levine Ross L.13,Hasserjian Robert P.14ORCID,Solé Francesc5ORCID,Levy Brynn15ORCID,Xu Xinjie2ORCID

Affiliation:

1. Departments of Cytogenetics and Molecular Pathology, Legacy Health, Portland, OR;

2. Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN;

3. Department of Pathology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA;

4. Laboratory Medicine Program, University Health Network and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada;

5. MDS Group, Microarrays Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Spain;

6. Hematology Department University Hospital of Salamanca, IBSAL, Salamanca, Spain;

7. Laboratory of Cytogenetics and Molecular Cytogenetics, Department of Clinical Pathology, Italian Hospital, Buenos Aires, Argentina;

8. Hematology Laboratory, Germans Trias i Pujol University Hospital–Catalan Institute of Oncology, Josep Carreras Leukemia Research Institute, Barcelona, Spain;

9. Clinics of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany;

10. Department of Human Genetics, Hannover Medical School, Hannover, Germany;

11. Laboratory Genetics of Lymphoid Malignancies, Institute of Experimental Medicine, Buenos Aires, Argentina;

12. Laboratory of Cytogenetics and Molecular Medicine, Hematology University of Perugia, Perugia, Italy;

13. Department of Medicine, Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY;

14. Department of Pathology, Massachusetts General Hospital, Boston, MA; and

15. College of Physicians and Surgeons, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY

Abstract

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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