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

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 Wor...

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Bibliographic Details
Published in:Clinical cancer research 2017-07, Vol.23 (13), p.e107-e114
Main Authors: Achatz, Maria Isabel, Porter, Christopher C, Brugières, Laurence, Druker, Harriet, Frebourg, Thierry, Foulkes, William D, Kratz, Christian P, Kuiper, Roland P, Hansford, Jordan R, Hernandez, Hector Salvador, Nathanson, Katherine L, Kohlmann, Wendy K, Doros, Leslie, Onel, Kenan, Schneider, Kami Wolfe, Scollon, Sarah R, Tabori, Uri, Tomlinson, Gail E, Evans, D Gareth R, Plon, Sharon E
Format: Article
Language:English
Subjects:
Adenomatous polyposis coli
Adenomatous Polyposis Coli - diagnosis
Adenomatous Polyposis Coli - epidemiology
Adenomatous Polyposis Coli - genetics
Cancer
Cancer screening
Child
Children
Disorders
Early Detection of Cancer
Gastrointestinal Neoplasms - diagnosis
Gastrointestinal Neoplasms - epidemiology
Gastrointestinal Neoplasms - genetics
Genetic Predisposition to Disease
Genetic screening
Genetic Testing
Hamartoma Syndrome, Multiple - diagnosis
Hamartoma Syndrome, Multiple - epidemiology
Hamartoma Syndrome, Multiple - genetics
Health risks
Humans
Literature reviews
LKB1 protein
Management
Medical screening
Mismatch repair
Neoplasia
Neoplasms
Pediatrics
Peutz-Jeghers Syndrome - diagnosis
Peutz-Jeghers Syndrome - epidemiology
Peutz-Jeghers Syndrome - genetics
Polyposis coli
PTEN protein
Repair
Risk management
Smad4 protein
Surveillance
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Summary: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 ( and ), juvenile polyposis coli ( and ), Peutz-Jeghers Syndrome ( / ), and PTEN hamartoma tumor syndrome (PHTS; ), 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. .
ISSN:1078-0432
1557-3265
DOI:10.1158/1078-0432.ccr-17-0790