儿童癌症易感性综合征——儿科肿瘤学和血液学协会癌症易感性工作组的简要综述与建议
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
作者信息
Ripperger Tim, Bielack Stefan S, Borkhardt Arndt, Brecht Ines B, Burkhardt Birgit, Calaminus Gabriele, Debatin Klaus-Michael, Deubzer Hedwig, Dirksen Uta, Eckert Cornelia, Eggert Angelika, Erlacher Miriam, Fleischhack Gudrun, Frühwald Michael C, Gnekow Astrid, Goehring Gudrun, Graf Norbert, Hanenberg Helmut, Hauer Julia, Hero Barbara, Hettmer Simone, von Hoff Katja, Horstmann Martin, Hoyer Juliane, Illig Thomas, Kaatsch Peter, Kappler Roland, Kerl Kornelius, Klingebiel Thomas, Kontny Udo, Kordes Uwe, Körholz Dieter, Koscielniak Ewa, Kramm Christof M, Kuhlen Michaela, Kulozik Andreas E, Lamottke Britta, Leuschner Ivo, Lohmann Dietmar R, Meinhardt Andrea, Metzler Markus, Meyer Lüder H, Moser Olga, Nathrath Michaela, Niemeyer Charlotte M, Nustede Rainer, Pajtler Kristian W, Paret Claudia, Rasche Mareike, Reinhardt Dirk, Rieß Olaf, Russo Alexandra, Rutkowski Stefan, Schlegelberger Brigitte, Schneider Dominik, Schneppenheim Reinhard, Schrappe Martin, Schroeder Christopher, von Schweinitz Dietrich, Simon Thorsten, Sparber-Sauer Monika, Spix Claudia, Stanulla Martin, Steinemann Doris, Strahm Brigitte, Temming Petra, Thomay Kathrin, von Bueren Andre O, Vorwerk Peter, Witt Olaf, Wlodarski Marcin, Wössmann Willy, Zenker Martin, Zimmermann Stefanie, Pfister Stefan M, Kratz Christian P
机构信息
Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Pediatrics 5 (Oncology, Hematology, Immunology), Klinikum Stuttgart-Olgahospital, Stuttgart, Germany.
出版信息
Am J Med Genet A. 2017 Apr;173(4):1017-1037. doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7.
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.
遗传易感性是儿童和青少年癌症的一个重要病因。尽管已经描述了大量的癌症易感基因及其相关综合征和恶性肿瘤，但仍有可能存在更多尚未被识别出患有遗传性癌症易感综合征的儿科癌症患者。在2016年初的一次共识会议上，我们召集了人类遗传学和儿科血液学/肿瘤学领域的专家，以审查现有数据、对大量信息进行分类，并就何时应怀疑年轻肿瘤患者患有癌症易感综合征制定建议。本综述总结了儿科肿瘤学中癌症易感综合征的当前知识，并提供了应怀疑儿童癌症易感综合征的临床情况的基本信息。
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