Clinical phenotypes and Wilms tumor

Med Pediatr Oncol. 1993;21(3):182-7. doi: 10.1002/mpo.2950210306.

Abstract

Wilms tumor can occur in association with a number of recognizable patterns of malformation, as first described by Miller et al. in 1964. This paper represents a synthesis of the current state of knowledge regarding recognizable phenotypes associated with Wilms tumor. Specific disorders discussed include the Beckwith-Wiedemann syndrome, which has been localized to 11p15.5; isolated hemihypertrophy; sporadic aniridia, which is almost always associated with del(11p13); genital anomalies, particularly male pseudohermaphroditism and the Denys-Drash syndrome; and more weakly associated or uncommon conditions, such as neurofibromatosis and Perlman syndrome, respectively. Wilms tumor (WT) surveillance for specific high risk phenotypes should include a rational schedule of abdominal ultrasound examinations, taking into account the epidemiology of WT associated with specific disorders. Physical examination, with emphasis on abdominal palpation, and urinalysis should also be performed on a rational schedule. The schedule of examinations needs to be arrived at with input from clinical geneticists, oncologists, epidemiologists and pathologists with WT expertise. Lastly, care-takers of high risk individuals should be taught abdominal palpation, to be performed daily at home.

Publication types

  • Review

MeSH terms

  • Aniridia / genetics
  • Child
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Phenotype
  • Urogenital Abnormalities
  • Wilms Tumor / genetics*
  • Wilms Tumor / pathology