Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

doi:10.1002/ajmg.a.38142

Review

. 2017 Apr;173(4):1017-1037.

doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7.

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Tim Ripperger¹, Stefan S Bielack², Arndt Borkhardt³, Ines B Brecht^{4

5}, Birgit Burkhardt⁶, Gabriele Calaminus⁶, Klaus-Michael Debatin⁷, Hedwig Deubzer⁸, Uta Dirksen⁶, Cornelia Eckert⁸, Angelika Eggert⁸, Miriam Erlacher⁹, Gudrun Fleischhack¹⁰, Michael C Frühwald¹¹, Astrid Gnekow¹¹, Gudrun Goehring¹, Norbert Graf¹², Helmut Hanenberg^{3

13}, Julia Hauer³, Barbara Hero¹⁴, Simone Hettmer⁹, Katja von Hoff¹⁵, Martin Horstmann¹⁵, Juliane Hoyer¹⁶, Thomas Illig^{1

17}, Peter Kaatsch¹⁸, Roland Kappler¹⁹, Kornelius Kerl⁶, Thomas Klingebiel²⁰, Udo Kontny²¹, Uwe Kordes¹⁵, Dieter Körholz²², Ewa Koscielniak², Christof M Kramm²³, Michaela Kuhlen³, Andreas E Kulozik²⁴, Britta Lamottke²⁵, Ivo Leuschner²⁶, Dietmar R Lohmann^{27

28}, Andrea Meinhardt²², Markus Metzler⁵, Lüder H Meyer⁷, Olga Moser²¹, Michaela Nathrath^{29

30

31}, Charlotte M Niemeyer⁹, Rainer Nustede³², Kristian W Pajtler^{24

33}, Claudia Paret³⁴, Mareike Rasche¹⁰, Dirk Reinhardt¹⁰, Olaf Rieß³⁵, Alexandra Russo³⁴, Stefan Rutkowski¹⁵, Brigitte Schlegelberger¹, Dominik Schneider³⁶, Reinhard Schneppenheim¹⁵, Martin Schrappe³⁷, Christopher Schroeder³⁵, Dietrich von Schweinitz¹⁹, Thorsten Simon¹⁴, Monika Sparber-Sauer², Claudia Spix¹⁸, Martin Stanulla²⁵, Doris Steinemann¹, Brigitte Strahm⁹, Petra Temming^{10

28}, Kathrin Thomay¹, Andre O von Bueren^{38

39}, Peter Vorwerk⁴⁰, Olaf Witt²⁴, Marcin Wlodarski⁹, Willy Wössmann²², Martin Zenker⁴¹, Stefanie Zimmermann²⁰, Stefan M Pfister^{24

33}, Christian P Kratz²⁵

Affiliations

¹ Department of Human Genetics, Hannover Medical School, Hannover, Germany.
² Pediatrics 5 (Oncology, Hematology, Immunology), Klinikum Stuttgart-Olgahospital, Stuttgart, Germany.
³ Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Heinrich Heine University, Düsseldorf, Germany.
⁴ General Pediatrics, Hematology/Oncology, University Children's Hospital Tuebingen, Tuebingen, Germany.
⁵ Department of Pediatrics and Adolescent Medicine, University of Erlangen-Nuremberg, Erlangen, Germany.
⁶ Pediatric Hematology and Oncology, University Children's Hospital Muenster, Muenster, Germany.
⁷ Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
⁸ Department of Pediatric Oncology and Hematology, Charité University Medicine, Berlin, Germany.
⁹ Faculty of Medicine, Division of Pediatric Hematology and Oncology Medical Center, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.
¹⁰ Pediatric Oncology and Hematology, Pediatrics III, University Hospital of Essen, Essen, Germany.
¹¹ Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
¹² Department of Pediatric Hematology and Oncology, University of Saarland, Homburg, Germany.
¹³ Department of Otorhinolaryngology and Head/Neck Surgery, Heinrich Heine University, Düsseldorf, Germany.
¹⁴ Department of Pediatric Hematology and Oncology, University of Cologne, Cologne, Germany.
¹⁵ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹⁶ Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.
¹⁷ Hannover Unified Biobank, Hannover Medical School, Hannover, Germany.
¹⁸ German Childhood Cancer Registry (GCCR), Institute for Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
¹⁹ Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
²⁰ Hospital for Children and Adolescents, Goethe-University Frankfurt, Frankfurt am Main, Germany.
²¹ Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Medical Center, Aachen, Germany.
²² Department of Pediatric Hematology and Oncology, Justus Liebig University, Giessen, Germany.
²³ Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen, Germany.
²⁴ Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.
²⁵ Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
²⁶ Kiel Paediatric Tumor Registry, Department of Paediatric Pathology, University of Kiel, Kiel, Germany.
²⁷ Institute of Human Genetics, University Hospital Essen, Essen, Germany.
²⁸ Eye Oncogenetics Research Group, University Hospital Essen, Essen, Germany.
²⁹ Department of Pediatric Oncology, Klinikum Kassel, Kassel, Germany.
³⁰ Clinical Cooperation Group Osteosarcoma, Helmholtz Zentrum Munich, Neuherberg, Germany.
³¹ Pediatric Oncology Center, Technical University Munich, Munich, Germany.
³² Department of Surgery, Children's Hospital, Hannover Medical School, Hannover, Germany.
³³ Division of Pediatric Neuro-Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³⁴ Department of Pediatric Hematology/Oncology, University Medical Center Mainz, Mainz, Germany.
³⁵ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
³⁶ Clinic of Pediatrics, Dortmund, Germany.
³⁷ Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
³⁸ Department of Pediatrics, Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen, Germany.
³⁹ Division of Pediatric Hematology and Oncology, University Hospital of Geneva, Geneva, Switzerland.
⁴⁰ Pediatric Oncology, Otto von Guericke University Children's Hospital, Magdeburg, Germany.
⁴¹ Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.

PMID: 28168833
DOI: 10.1002/ajmg.a.38142

Review

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Tim Ripperger et al. Am J Med Genet A. 2017 Apr.

. 2017 Apr;173(4):1017-1037.

doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7.

Authors

Affiliations

¹ Department of Human Genetics, Hannover Medical School, Hannover, Germany.
² Pediatrics 5 (Oncology, Hematology, Immunology), Klinikum Stuttgart-Olgahospital, Stuttgart, Germany.
³ Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Heinrich Heine University, Düsseldorf, Germany.
⁴ General Pediatrics, Hematology/Oncology, University Children's Hospital Tuebingen, Tuebingen, Germany.
⁵ Department of Pediatrics and Adolescent Medicine, University of Erlangen-Nuremberg, Erlangen, Germany.
⁶ Pediatric Hematology and Oncology, University Children's Hospital Muenster, Muenster, Germany.
⁷ Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
⁸ Department of Pediatric Oncology and Hematology, Charité University Medicine, Berlin, Germany.
⁹ Faculty of Medicine, Division of Pediatric Hematology and Oncology Medical Center, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.
¹⁰ Pediatric Oncology and Hematology, Pediatrics III, University Hospital of Essen, Essen, Germany.
¹¹ Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
¹² Department of Pediatric Hematology and Oncology, University of Saarland, Homburg, Germany.
¹³ Department of Otorhinolaryngology and Head/Neck Surgery, Heinrich Heine University, Düsseldorf, Germany.
¹⁴ Department of Pediatric Hematology and Oncology, University of Cologne, Cologne, Germany.
¹⁵ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹⁶ Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.
¹⁷ Hannover Unified Biobank, Hannover Medical School, Hannover, Germany.
¹⁸ German Childhood Cancer Registry (GCCR), Institute for Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
¹⁹ Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
²⁰ Hospital for Children and Adolescents, Goethe-University Frankfurt, Frankfurt am Main, Germany.
²¹ Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Medical Center, Aachen, Germany.
²² Department of Pediatric Hematology and Oncology, Justus Liebig University, Giessen, Germany.
²³ Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen, Germany.
²⁴ Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.
²⁵ Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
²⁶ Kiel Paediatric Tumor Registry, Department of Paediatric Pathology, University of Kiel, Kiel, Germany.
²⁷ Institute of Human Genetics, University Hospital Essen, Essen, Germany.
²⁸ Eye Oncogenetics Research Group, University Hospital Essen, Essen, Germany.
²⁹ Department of Pediatric Oncology, Klinikum Kassel, Kassel, Germany.
³⁰ Clinical Cooperation Group Osteosarcoma, Helmholtz Zentrum Munich, Neuherberg, Germany.
³¹ Pediatric Oncology Center, Technical University Munich, Munich, Germany.
³² Department of Surgery, Children's Hospital, Hannover Medical School, Hannover, Germany.
³³ Division of Pediatric Neuro-Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³⁴ Department of Pediatric Hematology/Oncology, University Medical Center Mainz, Mainz, Germany.
³⁵ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
³⁶ Clinic of Pediatrics, Dortmund, Germany.
³⁷ Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
³⁸ Department of Pediatrics, Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen, Germany.
³⁹ Division of Pediatric Hematology and Oncology, University Hospital of Geneva, Geneva, Switzerland.
⁴⁰ Pediatric Oncology, Otto von Guericke University Children's Hospital, Magdeburg, Germany.
⁴¹ Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.

PMID: 28168833
DOI: 10.1002/ajmg.a.38142

Abstract

Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.

Keywords: genetic cancer predisposition; genetic predisposition testing; genetic screening; germline mutation; hereditary cancer syndrome.

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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

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