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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.

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