Risk of tumorigenesis in overgrowth syndromes: a comprehensive review

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):53-71. doi: 10.1002/ajmg.c.30064.

Abstract

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple* / classification
  • Disease Susceptibility
  • Growth Disorders / classification
  • Growth Disorders / complications*
  • Humans
  • Neoplasms / classification
  • Neoplasms / complications*
  • Syndrome