Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.

摘要: Improvements in our understanding of the genetic basis human disease and increased utilization testing have identified a variety heritable disorders associated with onset benign or malignant neoplasms during childhood. In many cases, optimal management affected children is dependent upon early detection treatment tumors. Surveillance strategies based on natural history these lesions are often complex, requiring clinical examinations radiologic laboratory studies that evolve over patient's lifetime. A general pediatrician may be first to suspect one patient, faced questions regarding testing, cancer risk, screening. The also coordinate interpret results specific surveillance studies. this review, we present etiology, presentation, history, recommendations for four disparate hereditary tumor predisposing syndromes, including Beckwith-Wiedemann syndrome/idiopathic hemihyperplasia, von Hippel-Lindau disease, Li-Fraumeni syndrome, rhabdoid tumor/schwannomatosis. These examples meant offer clinician practical as well framework which base other conditions an risk develop tumors