title: Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition.
abstract: BACKGROUND
  Neuroendocrine tumours (NETs) are rare in children and limited data are available. We aimed to specify tumour and patient characteristics and to investigate the role of genetic predisposition in the aetiology of paediatric NETs.
  
  
  METHODS
  Using the Dutch Pathology Registry PALGA, we collected patient- and tumour data of paediatric NETs in the Netherlands between 1991 and 2013 (N=483).
  
  
  RESULTS
  The incidence of paediatric NETs in the Netherlands is 5.40 per one million per year. The majority of NETs were appendiceal tumours (N=441;91.3%). Additional surgery in appendiceal NETs was indicated in 89 patients, but performed in only 27 of these patients. Four out of five patients with pancreatic NETs were diagnosed with Von Hippel-Lindau disease (N=2) and Multiple Endocrine Neoplasia type 1 (N=2). In one patient with an appendiceal NET Familial Adenomatous Polyposis was diagnosed. On the basis of second primary tumours or other additional diagnoses, involvement of genetic predisposition was suggestive in several others.
  
  
  CONCLUSIONS
  We identified a significant number of patients with a confirmed or suspected tumour predisposition syndrome and show that paediatric pancreatic NETs in particular are associated with genetic syndromes. In addition, we conclude that treatment guidelines for appendiceal paediatric NETs need revision and improved implementation.
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.
authors.forename: I J
authors.initials: IJ
authors.lastname: Diets
authors.affiliation: Department of Pathology, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.
authors.forename: I D
authors.initials: ID
authors.lastname: Nagtegaal
authors.affiliation: Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Center, Wytemaweg 80, Rotterdam 3015CN, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Loeffen
authors.affiliation: Department of Surgery, Division of Pediatric Surgery, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.
authors.forename: I
authors.initials: I
authors.lastname: de Blaauw
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Waanders
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: Hoogerbrugge
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.|Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584CX, The Netherlands.
authors.forename: M C J
authors.initials: MC
authors.lastname: Jongmans
mesh_terms: D000293:Adolescent; D001063:Appendiceal Neoplasms / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000453:epidemiology / Q000235:genetics; D009426:Netherlands / Q000453:epidemiology; D018358:Neuroendocrine Tumors / Q000453:epidemiology* / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000453:epidemiology / Q000235:genetics; D012042:Registries; D006623:von Hippel-Lindau Disease / Q000235:genetics