The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

Saskia M J Hopman, Johannes H M Merks, Corianne A J M de Borgie, Cora M Aalfs, Leslie G Biesecker, Trevor Cole, Charis Eng, Eric Legius, Eamonn R Maher, Max M van Noesel, Alain Verloes, David H Viskochil, Anja Wagner, Rosanna Weksberg, Huib N Caron, Raoul C M Hennekam

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.

PATIENTS AND 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.

Originele taal-2Engels
Pagina's (van-tot)3247-54
Aantal pagina's8
TijdschriftEuropean Journal of Cancer
Volume49
Nummer van het tijdschrift15
DOI's
StatusGepubliceerd - jul. 2013
Extern gepubliceerdJa

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