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

被引：166

作者：

Ripperger, Tim ^{[1
]}

Bielack, Stefan S. ^{[2
]}

Borkhardt, Arndt ^{[3
]}

Brecht, Ines B. ^{[4
,5
]}

Burkhardt, Birgit

Calaminus, Gabriele ^{[6
]}

Debatin, Klaus-Michael ^{[7
]}

Deubzer, Hedwig ^{[8
]}

Dirksen, Uta

Eckert, Cornelia ^{[8
]}

Eggert, Angelika ^{[8
]}

Erlacher, Miriam ^{[9
,15
]}

Fleischhack, Gudrun

Fruehwald, Michael C. ^{[11
]}

Gnekow, Astrid ^{[11
]}

Goehring, Gudrun ^{[10
]}

Graf, Norbert

Hanenberg, Helmut ^{[3
,12
,13
]}

Hauer, Julia ^{[3
,16
]}

Hero, Barbara ^{[14
]}

Hettmer, Simone ^{[9
]}

von Hoff, Katja

Horstmann, Martin

Hoyer, Juliane

Illig, Thomas ^{[1
,17
]}

Kaatsch, Peter ^{[18
]}

Kappler, Roland ^{[19
]}

Kerl, Kornelius

Klingebiel, Thomas ^{[20
]}

Kontny, Udo ^{[21
]}

Kordes, Uwe

Koerholz, Dieter

Koscielniak, Ewa ^{[2
]}

Kramm, Christof M. ^{[23
]}

Kuhlen, Michaela

Kulozik, Andreas E. ^{[24
]}

Lamottke, Britta ^{[25
]}

Leuschner, Ivo ^{[26
]}

Lohmann, Dietmar R. ^{[22
,27
,28
]}

Meinhardt, Andrea

Metzler, Markus ^{[5
]}

Meyer, Lder H. ^{[7
]}

Moser, Olga

Nathrath, Michaela ^{[29
,30
,31
]}

Niemeyer, Charlotte M. ^{[9
]}

Nustede, Rainer ^{[32
]}

Pajtler, Kristian W. ^{[24
,33
]}

Paret, Claudia ^{[34
]}

Rasche, Mareike

Reinhardt, Dirk

机构：

[1] Hannover Med Sch, Dept Human Genet, Hannover, Germany

[2] Klinikum Stuttgart Olgahospital, Pediat Oncol Hematol Immunol 5, Stuttgart, Germany

[3] Univ Childrens Hosp, Heinrich Heine Univ, Med Fac Dept Pediat Oncol, Hematol & Clin Immunol, Dusseldorf, Germany

[4] Univ Childrens Hosp Tuebingen, Gen Pediat Hematol Oncol, Tubingen, Germany

[5] Univ Med Ctr Ulm, Dept Pediat & Adolescent Med, Ulm, Germany

[6] Univ Childrens Hosp Muenster, Pediat Hematol & Oncol, Munster, Germany

[7] Univ Med Ctr Ulm, Dept Pediat & Adolescent Med, Ulm, Germany

[8] Charite, Dept Pediat Oncol & Hematol, Berlin, Germany

[9] Univ Freiburg, Fac Med, Div Pediat Hematol & Oncol Med Ctr, Freiburg, Germany

[10] Univ Hosp Essen, Pediat Oncol & Hematol Pediat, Pediat 3, Essen, Germany

[11] Swabian Childrens Canc Ctr, Childrens Hosp Augsburg, Augsburg, Germany

[12] Univ Saarland, Dept Pediat Hematol & Oncol, Homburg, Germany

[13] Heinrich Heine Univ, Dept Otorhinolaryngol & Head Neck Surg, Dusseldorf, Germany

[14] Univ Cologne, Dept Pediat Hematol & Oncol, Cologne, Germany

[15] Univ Med Ctr Hamburg Eppendorf, Dept Pediat Hematol & Oncol, Hamburg, Germany

[16] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany

[17] Hannover Med Sch, Hannover Unified Biobank, Hannover, Germany

[18] Johannes Gutenberg Univ Mainz, Univ Med Ctr Johannes Gutenberg, German Childhood Canc Registry GCCR, Inst Med Biostatist Epidemiol & Informat IMBEI, Mainz, Germany

[19] Ludwig Maximilians Univ Munchen, Dept Pediat Surg, Dr Hauner Childrens Hosp, Munich, Germany

[20] Univ Med Ctr, Oncol & Stem Cell Transplantat, Aachen, Germany

[21] Justus Liebig Univ, Dept Pediat Hematol & Oncol, Giessen, Germany

[22] Univ Med Ctr Goettingen, Div Pediat Hematol & Oncol, Gottingen, Germany

[23] Univ Heidelberg Hosp, Dept Pediat Oncol Hematol & Immunol, Heidelberg, Germany

[24] Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Germany

[25] Univ Kiel, Kiel Paediat Tumor Registry, Dept Paediat Pathol, Kiel, Germany

[26] Univ Hosp Essen, Inst Human Genet, Essen, Germany

[27] Univ Hosp Essen, Eye Oncogenet Res Grp, Essen, Germany

[28] Klinikum Kassel, Dept Pediat Oncol, Kassel, Germany

[29] Helmholtz Zentrum Munich, Clin Cooperat Grp Osteosarcoma, Neuherberg, Germany

[30] Tech Univ Munich, Pediat Oncol Ctr, Munich, Germany

[31] Childrens Hosp, Hannover Med Sch, Dept Surg, Hannover, Germany

[32] German Canc Res Ctr, Div Pediat Neuro Oncol, Heidelberg, Germany

[33] Univ Med Ctr Mainz, Dept Pediat Hematol Oncol, Mainz, Germany

[34] Univ Tubingen, Inst Med Genet & Appl Gen, Tubingen, Germany

[35] Pediat Clin, Dortmund, Germany

[36] Univ Hosp Schleswig Holstein, Dept Pediat, Campus Kiel, Kiel, Germany

[37] Univ Med Ctr Goettingen, Dept Pediat, Div Pediat Hematol & Oncol, Gottingen, Germany

[38] Univ Hosp Geneva, Div Pediat Hematol & Oncol, Geneva, Switzerland

[39] Otto Guericke Univ, Childrens Hosp, Pediat Oncol, Magdeburg, Germany

[40] Otto Guericke Univ, Inst Human Genet, Univ Hosp Magdeburg, Magdeburg, Germany

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 04期

关键词：

genetic cancer predisposition; genetic predisposition testing; genetic screening; germline mutation; hereditary cancer syndrome; ACUTE LYMPHOBLASTIC-LEUKEMIA; ACUTE MYELOID-LEUKEMIA; LI-FRAUMENI SYNDROME; FAMILIAL ADENOMATOUS POLYPOSIS; TUMOR-SUPPRESSOR GENE; BIALLELIC FANCD1/BRCA2 MUTATIONS; JUVENILE MYELOMONOCYTIC LEUKEMIA; GASTROINTESTINAL STROMAL TUMORS; TUBEROUS SCLEROSIS COMPLEX; ACUTE MYELOGENOUS LEUKEMIA;

D O I：

10.1002/ajmg.a.38142

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

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页码：1017 / 1037

页数：21

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