Information on GISTs occurring in children and young adults consists mainly of descriptive individual case reports (see the bibliography on Pediatric GIST on our GIST Bibliography page). Symptoms of GIST in children include hematemesis (vomiting blood), anemia accompanied by fatigue, and tarry stools.
There are a few recent review papers describing series of cases that are more informative than earlier single case reports (Kerr at al, 1999; Cypriano e al, 2004; Durham et al, 2004; Prakash et al, 2005; Price et al, 2005). Pediatric GIST (defined as cases in persons 0-18 years old) is more common in girls than in boys. Most cases occur in the stomach, and these generally involve multiple tumor nodules (multifocal disease). Several authors report pediatric GIST having spread to lymph nodes; in contrast, lymph node involvement is rare in adult cases. Pediatric GIST appears more likely to recur in the original location than adult GIST. Pediatric GIST may be less likely than adult GIST to metastasize, but metastasis to the liver is the most frequent site. Finally, the course of the disease appears to be less aggressive in pediatric cases, as judged by survival for many years after the appearance of liver metastases.
Only a few pediatric GISTs have been tested for gene mutations, but of 9 reported cases 8 are wild-type (unmutated) for c-kit and for PDGFRA (Prakash et al, 2005; Price et al, 2005; Li et al, 2002). One case of mutant exon 9 has been described (Price et al, 2005) in a boy with gastric GIST.
Prakash et al (2005) did mutation and gene expression testing on both pediatric GIST patients and young adults (19-30 years old) with GIST. Interestingly, the young adults displayed a different mutation pattern than older adult GIST patients: 3 were wild-type (all females with gastric GIST), and 3 showed exon 9 mutations, while only 4 showed the exon 11 mutations found in the majority of cases of GIST in older adults. These authors also found differing gene expression patterns in the pediatric and young patients compared to older adults.
Knowledge about pediatric GIST is still sparse, but it appears to have features that contrast with sporadic GIST in middle-aged and older adults. The mutations causing pediatric GIST have not been identified.
There are a few reports of congenital GIST presenting as intestinal obstruction soon after birth (Wu et al, 1999; Bates et al, 2000; Geramizadeh et al, 2005). Little testing was done on these cases, but surgery is reported to have solved the problem without recurrence.