[Gastrointestinal stromal tumours in pediatrics: a summary of the literature on this orphan disease]

Bull Cancer. 2011 Jan;98(1):79-86. doi: 10.1684/bdc.2010.1296.
[Article in French]

Abstract

Recommendations for the management of gastrointestinal stromal tumours (GIST) in children and adolescents do presently not exist. Thus, a summary of the current literature was conducted serving as a basis for the development of optimal management strategies for childhood GIST. Pediatric cases of GIST may occur sporadically, or within a predisposition syndrome such as Carney triad or Carney-Stratakis syndrome. Moreover, cases with familial GIST have been reported. The frequency of mutations of the oncogenes KIT and PDGFRα in sporadic GIST is substantially lower as compared with adults with GIST. An international prospective registration based on national registries has recently been started in order to acquire more clinical and molecular data and to develop appropriate management strategies for children and adolescents with GIST.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adolescent
  • Child
  • Gastrointestinal Stromal Tumors* / diagnosis
  • Gastrointestinal Stromal Tumors* / genetics
  • Gastrointestinal Stromal Tumors* / pathology
  • Gastrointestinal Stromal Tumors* / therapy
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Mutation / genetics
  • Practice Guidelines as Topic
  • Proto-Oncogene Proteins c-kit / genetics
  • Rare Diseases* / diagnosis
  • Rare Diseases* / genetics
  • Rare Diseases* / pathology
  • Rare Diseases* / therapy
  • Receptor, Platelet-Derived Growth Factor alpha / genetics

Substances

  • Proto-Oncogene Proteins c-kit
  • Receptor, Platelet-Derived Growth Factor alpha