Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia
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- Eric J. Duncavage
- 1Department of Pathology and Immunology, Washington University, St. Louis, MO
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- Adam Bagg
- 2Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA
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- Robert P. Hasserjian
- 3Massachusetts General Hospital, Harvard Medical School, Boston, MA
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- Courtney D. DiNardo
- 4Division of Cancer Medicine, Department of Leukemia, MD Anderson Cancer Center, Houston, TX
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- Lucy A. Godley
- 5Section of Hematology and Oncology, Departments of Medicine and Human Genetics, The University of Chicago, Chicago, IL
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- Ilaria Iacobucci
- 6Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN
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- Siddhartha Jaiswal
- 7Department of Pathology, Stanford University, Palo Alto, CA
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- Luca Malcovati
- 8Department of Molecular Medicine, University of Pavia & Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy
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- Alessandro M. Vannucchi
- 9Department of Hematology, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence and Azienda Ospedaliero-Universitaria Careggi, Florence, Italy
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- Keyur P. Patel
- 10Division of Pathology/Lab Medicine, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX
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- Daniel A. Arber
- 11Department of Pathology, University of Chicago, Chicago, IL
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- Maria E. Arcila
- 12Department of Pathology, Memorial Sloan Lettering Cancer Center, New York, NY
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- Rafael Bejar
- 13Division of Hematology and Oncology, University of California San Diego, La Jolla, CA
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- Nancy Berliner
- 14Division of Hematology, Brigham and Women’s Hospital, Harvard University, Boston, MA
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- Michael J. Borowitz
- 15Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD
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- Susan Branford
- 17Department of Genetics and Molecular Pathology, Center for Cancer Biology, SA Pathology, Adelaide, Australia
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- Anna L. Brown
- 18Department of Pathology, South Australia Heath Alliance, Adelaide, Australia
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- Catherine A. Cargo
- 19Haematological Malignancy Diagnostic Service, St James’s University Hospital, Leeds, United Kingdom
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- Hartmut Döhner
- 20Department of Internal Medicine III, Ulm University Hospital, Ulm, Germany
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- Brunangelo Falini
- 21Department of Hematology, CREO, University of Perugia, Perugia, Italy
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- Guillermo Garcia-Manero
- 22Division of Cancer Medicine, Department of Leukemia, MD Anderson Cancer Center, Houston, TX
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- Torsten Haferlach
- 23MLL Munich Leukemia Laboratory, Munich, Germany
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- Eva Hellström-Lindberg
- 24Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden
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- Annette S. Kim
- 25Department of Pathology, Brigham and Women’s Hospital, Harvard University, Boston, MA
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- Jeffery M. Klco
- 6Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN
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- Rami Komrokji
- 26Department of Malignant Hematology, Moffitt Cancer Center, Tampa, FL
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- Mignon Lee-Cheun Loh
- 27Department of Pediatrics, Ben Towne Center for Childhood Cancer Research, Seattle Children’s Hospital, University of Washington, Seattle, WA
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- Sanam Loghavi
- 10Division of Pathology/Lab Medicine, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX
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- Charles G. Mullighan
- 6Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN
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- Seishi Ogawa
- 28University of Kyoto School of Medicine, Kyoto, Japan
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- Attilio Orazi
- 29Department of Pathology, Texas Tech University Health Sciences Center, El Paso, TX
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- Elli Papaemmanuil
- 30Memorial Sloan Lettering Cancer Center, New York, NY
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- Andreas Reiter
- 31University Hospital Mannheim, Heidelberg University, Mannheim, Germany
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- David M. Ross
- 32Haematology Directorate, SA Pathology, Adelaide, Australia
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- Michael Savona
- 33Department of Medicine, Vanderbilt University, Nashville, TN
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- Akiko Shimamura
- 34Dana Farber/Boston Children’s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA
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- Radek C. Skoda
- 35Department of Biomedicine, University Hospital Basel, Basel, Switzerland
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- Francesc Solé
- 36MDS Group, Institut de Recerca contra la Leucèmia Josep Carreras, Barcelona, Spain
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- Richard M. Stone
- 37Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA
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- Ayalew Tefferi
- 38Division of Hematology, Mayo Clinic, Rochester, MN
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- Matthew J. Walter
- 39Division of Oncology, Washington University, St. Louis, MO
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- David Wu
- 40Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA
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- Benjamin L. Ebert
- 41Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA
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- Mario Cazzola
- 42Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
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説明
<jats:title>Abstract</jats:title> <jats:p>Myeloid neoplasms and acute leukemias derive from the clonal expansion of hematopoietic cells driven by somatic gene mutations. Although assessment of morphology plays a crucial role in the diagnostic evaluation of patients with these malignancies, genomic characterization has become increasingly important for accurate diagnosis, risk assessment, and therapeutic decision making. Conventional cytogenetics, a comprehensive and unbiased method for assessing chromosomal abnormalities, has been the mainstay of genomic testing over the past several decades and remains relevant today. However, more recent advances in sequencing technology have increased our ability to detect somatic mutations through the use of targeted gene panels, whole-exome sequencing, whole-genome sequencing, and whole-transcriptome sequencing or RNA sequencing. In patients with myeloid neoplasms, whole-genome sequencing represents a potential replacement for both conventional cytogenetic and sequencing approaches, providing rapid and accurate comprehensive genomic profiling. DNA sequencing methods are used not only for detecting somatically acquired gene mutations but also for identifying germline gene mutations associated with inherited predisposition to hematologic neoplasms. The 2022 International Consensus Classification of myeloid neoplasms and acute leukemias makes extensive use of genomic data. The aim of this report is to help physicians and laboratorians implement genomic testing for diagnosis, risk stratification, and clinical decision making and illustrates the potential of genomic profiling for enabling personalized medicine in patients with hematologic neoplasms.</jats:p>
収録刊行物
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- Blood
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Blood 140 (21), 2228-2247, 2022-11-24
American Society of Hematology
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キーワード
詳細情報 詳細情報について
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- CRID
- 1360865820081541888
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- ISSN
- 15280020
- 00064971
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- HANDLE
- 2158/1287003
- 11571/1477199
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- PubMed
- 36130297
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- データソース種別
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- Crossref
- OpenAIRE
