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.

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.

Keywords: Childhood cancer; Delphi process; Paediatric oncology; Questionnaires; Screening instrument; Tumour predisposition syndromes.