Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

  • Maria Isabel Achatz
    1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland.
  • Christopher C. Porter
    2Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
  • Laurence Brugières
    3Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.
  • Harriet Druker
    4Division of Hematology/Oncology, Department of Genetic Counselling, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Thierry Frebourg
    5Department of Genetics, Rouen University Hospital, Rouen, France.
  • William D. Foulkes
    6Department of Medicine, Oncology and Human Genetics, McGill University, Montreal, Canada.
  • Christian P. Kratz
    7Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Roland P. Kuiper
    8Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
  • Jordan R. Hansford
    9Children's Cancer Centre, Royal Children's Hospital; Murdoch Children's Research Institute; University of Melbourne, Melbourne, Australia.
  • Hector Salvador Hernandez
    10Department of Pediatric OncoHematology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Katherine L. Nathanson
    11Department of Medicine, the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Wendy K. Kohlmann
    12Population Health Sciences Department, Huntsman Cancer Institute, Salt Lake City, Utah.
  • Leslie Doros
    13Cancer Genetics Clinic, Children's National Medical Center, Washington, DC.
  • Kenan Onel
    14Department of Pediatrics, Hofstra-Northwell School of Medicine and Cohen Children's Medical Center, Manhasset, New York.
  • Kami Wolfe Schneider
    15Division of Hematology, Oncology, Bone Marrow Transplant, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
  • Sarah R. Scollon
    16Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas.
  • Uri Tabori
    17Division of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Gail E. Tomlinson
    18Department of Pediatric Hematology-Oncology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas.
  • D. Gareth R. Evans
    19Department of Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester, United Kingdom.
  • Sharon E. Plon
    16Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas.

抄録

<jats:title>Abstract</jats:title> <jats:p>Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge, especially in childhood. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children with cancer predisposition syndromes. In this article, we review the current literature in polyposis syndromes that can be diagnosed in childhood and may be associated with an increased incidence of gastrointestinal neoplasms and other cancer types. These disorders include adenomatous polyposis syndromes (APC and MUTYH), juvenile polyposis coli (BMPR1A and SMAD4), Peutz–Jeghers Syndrome (STK11/LKB1), and PTEN hamartoma tumor syndrome (PHTS; PTEN), which can present with a more limited juvenile polyposis phenotype. Herein, the panel of experts provides recommendations for clinical diagnosis, approach to genetic testing, and focus on cancer surveillance recommendations when appropriate during the pediatric period. We also review current controversies on genetic evaluation of patients with hepatoblastoma and indications for surveillance for this tumor. Childhood cancer risks and surveillance associated with disorders involving the mismatch repair genes, including Lynch syndrome and constitutional mismatch repair deficiency (CMMRD), are discussed elsewhere in this series. Clin Cancer Res; 23(13); e107–e14. ©2017 AACR.</jats:p> <jats:p>See all articles in the online-only CCR Pediatric Oncology Series.</jats:p>

収録刊行物

  • Clinical Cancer Research

    Clinical Cancer Research 23 (13), e107-e114, 2017-07-01

    American Association for Cancer Research (AACR)

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