Clinical and molecular characteristics of gastrointestinal stromal tumors in the pediatric and young adult population

Curr Oncol Rep. 2009 Jul;11(4):314-21. doi: 10.1007/s11912-009-0044-0.

Abstract

Gastrointestinal stromal tumors (GISTs) typically occur late in life; however, there also are reports of pediatric and young adult patients. This rare subset of GISTs has clinicopathologic and molecular features distinct from their adult counterparts. Most pediatric GIST patients are female and often present with multifocal tumors that are epithelioid in nature. Although these young patients often have metastatic disease, it progresses slowly. Most pediatric GISTs lack the gain-of-function mutation in KIT or PDGFRA commonly found in adult cases. Expression profiling and genomic studies of pediatric GISTs show distinct molecular signatures, suggesting a unique origin as compared with adult GISTs. We and others have shown that the insulin-like growth factor 1 receptor may have a prominent role in driving KIT/PDGFRA mutation-negative adult and pediatric GISTs, and clinical trials are currently being designed to exploit these types of discoveries.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Age Factors
  • Child
  • Gastrointestinal Stromal Tumors / genetics*
  • Gastrointestinal Stromal Tumors / metabolism
  • Gastrointestinal Stromal Tumors / pathology
  • Gene Expression Profiling
  • Humans
  • Mutation
  • Proto-Oncogene Proteins c-kit / genetics*
  • Proto-Oncogene Proteins c-kit / metabolism
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Receptor, Platelet-Derived Growth Factor alpha / metabolism
  • Young Adult

Substances

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