Pediatric cancer/neoplasms
Conditions
Interventions
None
Sponsors
Princes Máxima Center for pediatric oncology
Eligibility
Age
No minimum to 17 Years
Inclusion criteria
Inclusion criteria: - Children (age < 19 years) newly diagnosed with cancer or neoplasms at the Princess Máxima Center - Written informed consent (by patient when aged 16 years or older, by patient and parent(s) when aged 12-16 years, by parent(s) when younger than 12 years)
Exclusion criteria
Exclusion criteria: - Patients and/or their parents who don't want to know the results of the DNA test (pediatric cancer gene panel analysis)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Endpoint of this study is determining the performance of a ‘genotype first approach’ in diagnostics of genetic predisposition in children with cancer (unselected for type of tumor), compared to the current ‘phenotype first approach’. We will evaluate the number of identified pediatric cancer predisposition syndromes (CPSs) by the genotype first approach and the phenotype first approach and will focus on discrepancies in diagnoses between these two approaches. Pediatric cancer predisposition syndromes are defined as clinical diagnosis (made by a clinical geneticist) and/or molecular diagnosis (based on targeted tests or WES CPS panel). | — |
Secondary
| Measure | Time frame |
|---|---|
| A. We will evaluate the number of pediatric CPSs diagnosed by the genotype first approach and the phenotype first approach for different groups of tumor types. B. Other secondary study parameters are: - The number of children referred to a clinical geneticists - The number of children who already have a molecular confirmed cancer predisposition syndrome at the time of cancer diagnosis - The total number of pediatric cancer predisposition syndromes - The number of variants of unknown significance (VUSs) detected by WES panel analysis. C. Furthermore we will evaluate the performance of the decision-support questionnaire (MIPOGG tool) on children with cancer who have undergone germline sequencing (WES based CPS panel). The performance of the tool is defined by its capacity to correctly distinguish between those children who do and those who do not have an underlying germline mutation in a cancer susceptibility gene. Based on these endpoints we will develop guidelines for best strategy to detect cancer predisposition syndromes in a routine clinical setting. | — |
Contacts
Public ContactJette Bakhuizen
Prinses Máxima Centrum voor kinderoncologie
Outcome results
None listed