Guardare oltre il tumore: le cancer-predisposing syndrome in età pediatrica

Abstract

About 10% of children with cancer carry a pathogenic mutation in genes predisposing to tumourigenesis. These mutations are being identified more and more frequently thanks to the use of next-generation sequencing techniques in the diagnostic work-up of cancer, and their integration into clinical practice is a new challenge for oncogenetics. The diagnosis of a cancer predisposing syndrome (CPS) has important implications for the management of the patient, as well as for the patient’s family, who may also include potential carriers of the identified predisposing mutation. Clinical criteria have been developed to help clinicians suspect a predisposing condition: attention should be given to the family and patient’s medical history, to specific clinical signs and to specific histopathological tumour subtype. A multidisciplinary team with specific training is essential for the complex clinical management of these conditions.