Epigenetics in gastrointestinal stromal tumors: clinical implications and potential therapeutic perspectives

Dig Dis Sci. 2013 Nov;58(11):3094-102. doi: 10.1007/s10620-013-2785-8. Epub 2013 Jul 20.

Abstract

Gastrointestinal stromal tumors (GIST) represent the most common mesenchymal neoplasms affecting the gastrointestinal tract. Activating mutations in either the KIT or PDGFRa gene are the principal oncogenic triggers with the former accounting for more than 80 % of cases. In the small subset of GIST that are wild type for both the aforementioned changes, other germline or somatic mutations have been identified. GIST exhibit a highly variable clinical behavior and the main prognostic determinants are tumor size, mitotic rate, and location. It is, however, strongly believed that, beyond classic genetics, additional epigenetic phenomena such as DNA hypomethylation and hypermethylation, microRNA alterations, and chromatin modifications underlie GIST tumorigenesis and influence the clinical course and response to standard treatment. This review aims to illuminate current advances in terms of epigenetics in GIST, as well as possible implications in prognosis and therapeutics.

MeSH terms

  • Epigenomics*
  • Gastrointestinal Stromal Tumors / genetics*
  • Gastrointestinal Stromal Tumors / metabolism*
  • Gastrointestinal Stromal Tumors / therapy
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease
  • Humans