title: The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.
abstract: BACKGROUND
  Identification of tumour predisposition syndromes in patients who have cancer in childhood is paramount for optimal care. A screening instrument that can help to identify such patients will facilitate physicians caring for children with cancer. The complete screening instrument should consist of a standardised series of pictures and a screening form for manifestations not visible in the pictures. Here we describe the development of such a screening form based on an international two-stage Delphi process and an initial validation of the complete instrument.
  
  
  METHODS
  We identified manifestations that may contribute to the diagnosis of a tumour predisposition syndrome through the Winter-Baraitser Dysmorphology Database and the textbook "Gorlin's Syndromes of the Head and Neck". In a two-round Delphi process, eight international content-experts scored the contribution of each of these manifestations. We performed a clinical validation of the instrument in a selected cohort of 10 paediatric cancer patients from another centre.
  
  
  RESULTS
  In total, 49 manifestations were found to contribute to the diagnosis of a tumour predisposition syndrome and were included in the screening form. The pilot validation study showed that patients suspected of having a tumour predisposition syndrome were recognised. Excellent correlation for indications of patient's referral between the screening instrument and the reference standard (personal evaluation by an experienced clinical geneticist) was found.
  
  
  CONCLUSIONS
  The Delphi process performed by international specialists with a function as opinion leaders in their field of expertise, has led to a screening instrument for childhood cancer patients. Patients who may have a tumour predisposition syndrome and thus have an indication to be referred for further genetic analysis, can be identified using the screening instrument.
authors.affiliation: Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Saskia M J
authors.initials: SM
authors.lastname: Hopman
authors.forename: Johannes H M
authors.initials: JH
authors.lastname: Merks
authors.forename: Corianne A J M
authors.initials: CA
authors.lastname: de Borgie
authors.forename: Cora M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: Leslie G
authors.initials: LG
authors.lastname: Biesecker
authors.forename: Trevor
authors.initials: T
authors.lastname: Cole
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Max M
authors.initials: MM
authors.lastname: van Noesel
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: David H
authors.initials: DH
authors.lastname: Viskochil
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
authors.forename: Rosanna
authors.initials: R
authors.lastname: Weksberg
authors.forename: Huib N
authors.initials: HN
authors.lastname: Caron
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D002648:Child; D015331:Cohort Studies; D003697:Delphi Technique; D055088:Early Detection of Cancer / Q000295:instrumentation / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010865:Pilot Projects; D011230:Precancerous Conditions / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D015203:Reproducibility of Results
keywords: Childhood cancer; Delphi process; Paediatric oncology; Questionnaires; Screening instrument; Tumour predisposition syndromes