Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation

Floor A M Postema, Saskia M J Hopman, Cora M Aalfs, Lieke P V Berger, Fonnet E Bleeker, Charlotte J Dommering, Marjolijn C J Jongmans, Tom G W Letteboer, Maran J W Olderode-Berends, Anja Wagner, Raoul C Hennekam, Johannes H M Merks

Research output: Contribution to journalReview articlepeer-review

18 Citations (Scopus)


INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in childhood cancer patients is of major clinical relevance. The presence of a TPS may be suggested by the type of tumour in the child. We present an overview of 23 childhood tumours that in themselves should be a reason to refer a child for genetic consultation.

METHODS: We performed a PubMed search to review the incidence of TPSs in children for 85 tumour types listed in the International Classification of Childhood Cancer third edition (ICCC-3). The results were discussed during a national consensus meeting with representative clinical geneticists from all six academic paediatric oncology centres in The Netherlands. A TPS incidence of 5% or more was considered a high probability and therefore in itself a reason for referral to a clinical geneticist.

RESULTS: The literature search resulted in data on the incidence of a TPS in 26 tumours. For 23/26 tumour types, a TPS incidence of 5% or higher was reported. In addition, during the consensus meeting the experts agreed that children with any carcinoma should always be referred for clinical genetic consultation as well, as it may point to a TPS.

CONCLUSION: We present an overview of 23 paediatric tumours with a high probability of a TPS; this will facilitate paediatric oncologists to decide which patients should be referred for genetic consultation merely based on type of tumour.

Original languageEnglish
Pages (from-to)48-54
Number of pages7
JournalEuropean journal of cancer (Oxford, England : 1990)
Publication statusPublished - Jul 2017
Externally publishedYes


  • Child
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Humans
  • Incidence
  • Neoplastic Syndromes, Hereditary/epidemiology
  • Referral and Consultation


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