Screening for tumor predisposition syndromes in childhood cancer

Approximately 10% of children with cancer have an underlying cause for their cancer: a tumor predisposition syndrome (TPS). The recognition of TPSs in children with cancer is important, as it has clinical consequences. It may (1) lead to recognition of other signs and symptoms unrelated to cancer, (2) affect cancer treatment, (3) allow for suitable cancer surveillance strategies, (4) offer insights into the prognosis of the child, and (5) can facilitate adequate genetic counselling of the child and its family members. Therefore, in an ideal situation, all children with cancer should be evaluated for the possibility of having a TPS.
In this thesis the clinical value of a screening tool used to identify TPSs in children with cancer was assessed. First, all the consequences and importance of identifying TPSs in children with cancer is systematically described. Secondly, the methodology of the implementation of the tool is further elaborated. All pediatric tumors with a high association are described. Finally, the validation of the tool is described. In addition, facial 3D photography of children with cancer is compared to healthy controls.
Research in this thesis emphasizes the importance of and provides guidance in diagnosing TPSs in children with cancer.