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

Eur J Pediatr. 2011 Mar;170(3):285-94. doi: 10.1007/s00431-010-1377-2. Epub 2011 Jan 6.

Abstract

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

Publication types

  • Review

MeSH terms

  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Child
  • Early Detection of Cancer / methods*
  • Genetic Predisposition to Disease
  • Humans
  • Li-Fraumeni Syndrome / diagnosis*
  • Li-Fraumeni Syndrome / genetics
  • Neurilemmoma / diagnosis
  • Neurilemmoma / genetics
  • Neurofibromatoses / diagnosis
  • Neurofibromatoses / genetics
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / genetics
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / genetics

Supplementary concepts

  • Schwannomatosis