Genomic profiling for clinical decision making in lymphoid neoplasms

  • Laurence de Leval
    1Institute of Pathology, Department of Laboratory Medicine and Pathology, Lausanne University Hospital and Lausanne University, Lausanne, Switzerland
  • Ash A. Alizadeh
    2Division of Oncology, Department of Medicine, Stanford University, Stanford, CA
  • P. Leif Bergsagel
    6Division of Hematology, Department of Internal Medicine, Mayo Clinic, Phoenix, AZ
  • Elias Campo
    7Haematopathology Section, Hospital Clínic, Institut d'Investigaciones Biomèdiques August Pi I Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain
  • Andrew Davies
    8Centre for Cancer Immunology, University of Southampton, Southampton, United Kingdom
  • Ahmet Dogan
    9Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY
  • Jude Fitzgibbon
    10Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom
  • Steven M. Horwitz
    11Lymphoma Service, Memorial Sloan Kettering Cancer Center, New York, NY
  • Ari M. Melnick
    12Department of Medicine, Weill Cornell Medicine, New York, NY
  • William G. Morice
    13Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
  • Ryan D. Morin
    14Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada
  • Bertrand Nadel
    17Aix Marseille University, CNRS, INSERM, CIML, Marseille, France
  • Stefano A. Pileri
    18Haematopathology Division, IRCCS, Istituto Europeo di Oncologia, IEO, Milan, Italy
  • Richard Rosenquist
    19Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
  • Davide Rossi
    21Institute of Oncology Research and Oncology Institute of Southern Switzerland, Faculty of Biomedical Sciences, Università della Svizzera Italiana, Bellinzona, Switzerland
  • Itziar Salaverria
    22Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
  • Christian Steidl
    23Centre for Lymphoid Cancer, BC Cancer and University of British Columbia, Vancouver, Canada
  • Steven P. Treon
    24Dana Farber Cancer Institute, Boston, MA
  • Andrew D. Zelenetz
    11Lymphoma Service, Memorial Sloan Kettering Cancer Center, New York, NY
  • Ranjana H. Advani
    25Division of Oncology, Department of Medicine, Stanford University, Stanford, CA
  • Carl E. Allen
    26Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX
  • Stephen M. Ansell
    27Mayo Clinic Cancer Center, Rochester, MN
  • Wing C. Chan
    28Department of Pathology, City of Hope National Medical Center, Duarte, CA
  • James R. Cook
    29Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH
  • Lucy B. Cook
    30Centre for Haematology, Imperial College London, London, United Kingdom
  • Francesco d’Amore
    31Department of Hematology, Aarhus University Hospital, Aarhus, Denmark
  • Stefan Dirnhofer
    32Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland
  • Martin Dreyling
    33Department of Medicine III, LMU Hospital, Munich, Germany
  • Kieron Dunleavy
    34Division of Hematology and Oncology, Georgetown Lombardi Comprehensive Cancer Centre, Georgetown University Hospital, Washington, DC
  • Andrew L. Feldman
    13Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
  • Falko Fend
    35Institute of Pathology and Neuropathology, Eberhard Karls University of Tübingen and Comprehensive Cancer Center, University Hospital Tübingen, Tübingen, Germany
  • Philippe Gaulard
    36Department of Pathology, University Hospital Henri Mondor, AP-HP, Créteil, France
  • Paolo Ghia
    38Università Vita-Salute San Raffaele and IRCCS Ospedale San Raffaele, Milan, Italy
  • John G. Gribben
    10Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom
  • Olivier Hermine
    39Service D’hématologie, Hôpital Universitaire Necker, Université René Descartes, Assistance Publique Hôpitaux de Paris, Paris, France
  • Daniel J. Hodson
    40Wellcome MRC Cambridge Stem Cell Institute, Cambridge Biomedical Campus, Cambridge, United Kingdom
  • Eric D. Hsi
    42Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC
  • Giorgio Inghirami
    43Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY
  • Elaine S. Jaffe
    44Hematopathology Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD
  • Kennosuke Karube
    45Department of Pathology and Laboratory Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Keisuke Kataoka
    46Division of Molecular Oncology, National Cancer Center Research Institute, Toyko, Japan
  • Wolfram Klapper
    48Hematopathology Section and Lymph Node Registry, Department of Pathology, University Hospital Schleswig-Holstein, Kiel, Germany
  • Won Seog Kim
    49Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, South Korea
  • Rebecca L. King
    13Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
  • Young H. Ko
    50Department of Pathology, Cheju Halla General Hospital, Jeju, Korea
  • Ann S. LaCasce
    24Dana Farber Cancer Institute, Boston, MA
  • Georg Lenz
    51Department of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany
  • José I. Martin-Subero
    52Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
  • Miguel A. Piris
    53Department of Pathology, Jiménez Díaz Foundation University Hospital, CIBERONC, Madrid, Spain
  • Stefania Pittaluga
    44Hematopathology Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD
  • Laura Pasqualucci
    54Institute for Cancer Genetics, Columbia University, New York, NY
  • Leticia Quintanilla-Martinez
    35Institute of Pathology and Neuropathology, Eberhard Karls University of Tübingen and Comprehensive Cancer Center, University Hospital Tübingen, Tübingen, Germany
  • Scott J. Rodig
    57Department of Pathology, Brigham and Women’s Hospital, Boston, MA
  • Andreas Rosenwald
    58Department of Pathology, University of Würzburg, Würzburg, Germany
  • Gilles A. Salles
    11Lymphoma Service, Memorial Sloan Kettering Cancer Center, New York, NY
  • Jesus San-Miguel
    59Clínica Universidad de Navarra, Navarra, Cancer Center of University of Navarra, Cima Universidad de NavarraI, Instituto de Investigacion Sanitaria de Navarra, Centro de Investigación Biomédica en Red de Céncer, Pamplona, Spain
  • Kerry J. Savage
    23Centre for Lymphoid Cancer, BC Cancer and University of British Columbia, Vancouver, Canada
  • Laurie H. Sehn
    23Centre for Lymphoid Cancer, BC Cancer and University of British Columbia, Vancouver, Canada
  • Gianpietro Semenzato
    60Department of Medicine, University of Padua and Veneto Institute of Molecular Medicine, Padova, Italy
  • Louis M. Staudt
    61Lymphoid Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD
  • Steven H. Swerdlow
    62Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA
  • Constantine S. Tam
    63Alfred Hospital and Monash University, Melbourne, Australia
  • Judith Trotman
    64Haematology Department, Concord Repatriation General Hospital, Sydney, Australia
  • Julie M. Vose
    65Department of Internal Medicine, Division of Hematology-Oncology, University of Nebraska Medical Center, Omaha, NE
  • Oliver Weigert
    33Department of Medicine III, LMU Hospital, Munich, Germany
  • Wyndham H. Wilson
    61Lymphoid Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD
  • Jane N. Winter
    66Feinberg School of Medicine, Northwestern University, Chicago, IL
  • Catherine J. Wu
    24Dana Farber Cancer Institute, Boston, MA
  • Pier L. Zinzani
    67IRCCS Azienda Ospedaliero-Universitaria di Bologna Istitudo di Ematologia “Seràgnoli” and Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale Università di Bologna, Bologna, Italy
  • Emanuele Zucca
    21Institute of Oncology Research and Oncology Institute of Southern Switzerland, Faculty of Biomedical Sciences, Università della Svizzera Italiana, Bellinzona, Switzerland
  • Adam Bagg
    68Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
  • David W. Scott
    23Centre for Lymphoid Cancer, BC Cancer and University of British Columbia, Vancouver, Canada

抄録

<jats:title>Abstract</jats:title><jats:p>With the introduction of large-scale molecular profiling methods and high-throughput sequencing technologies, the genomic features of most lymphoid neoplasms have been characterized at an unprecedented scale. Although the principles for the classification and diagnosis of these disorders, founded on a multidimensional definition of disease entities, have been consolidated over the past 25 years, novel genomic data have markedly enhanced our understanding of lymphomagenesis and enriched the description of disease entities at the molecular level. Yet, the current diagnosis of lymphoid tumors is largely based on morphological assessment and immunophenotyping, with only few entities being defined by genomic criteria. This paper, which accompanies the International Consensus Classification of mature lymphoid neoplasms, will address how established assays and newly developed technologies for molecular testing already complement clinical diagnoses and provide a novel lens on disease classification. More specifically, their contributions to diagnosis refinement, risk stratification, and therapy prediction will be considered for the main categories of lymphoid neoplasms. The potential of whole-genome sequencing, circulating tumor DNA analyses, single-cell analyses, and epigenetic profiling will be discussed because these will likely become important future tools for implementing precision medicine approaches in clinical decision making for patients with lymphoid malignancies.</jats:p>

収録刊行物

  • Blood

    Blood 140 (21), 2193-2227, 2022-11-24

    American Society of Hematology

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