Clinical Heterogeneity and Long-Term Outcomes of Pediatric Gastrointestinal Stromal Tumors: A Series of Four Patients Highlighting SDH-Deficient and SDH-Intact Subtypes
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Hala Elfarraj1, Maha Barbar1,2, Iyad Sultan1,2,3
1Department of Pediatrics, King Hussein Cancer Center, Amman, Jordan.
Abstract:
Pediatric gastrointestinal stromal tumors (GISTs) are rare, often lacking KIT or platelet-derived growth factor receptor-alpha (PDGFRA) mutations and driven by succinate dehydrogenase (SDH) deficiency. We report four pediatric patients (three females and one male) managed over a 19-year period. Two female patients had SDH-deficient tumors; one suffered metastatic relapse, illustrating the recurrent clinical course of this subtype. Of the two remaining cases, one SDH-intact female remains in remission 8 years post-diagnosis. The male patient demonstrated imatinib resistance but responded to sunitinib, facilitating gastrectomy. Despite a local recurrence managed by secondary wedge resection, he remains in remission. Comprehensive molecular profiling is essential for navigating GIST's clinical heterogeneity.
Insights
Pediatric gastrointestinal stromal tumors (GISTs) are rare and often lack common mutations. Succinate dehydrogenase (SDH) deficiency drives many pediatric GISTs, impacting their clinical course and treatment.
Area of Science:
- Oncology
- Pediatric Oncology
- Gastroenterology
Background:
- Pediatric gastrointestinal stromal tumors (GISTs) are rare malignancies.
- Unlike adult GISTs, pediatric GISTs frequently lack KIT or PDGFRA mutations.
- Succinate dehydrogenase (SDH) deficiency is a key driver in pediatric GISTs.
Purpose of the Study:
- To report on the clinical management and outcomes of four pediatric GIST patients.
- To highlight the role of SDH deficiency in pediatric GIST behavior.
- To emphasize the importance of molecular profiling in pediatric GIST.
Main Methods:
- Retrospective case series of four pediatric GIST patients over 19 years.
- Clinical data review including diagnosis, treatment, and follow-up.
- Molecular analysis (implied by discussion of mutations and SDH deficiency).
Main Results:
- Two patients had SDH-deficient GISTs; one experienced metastatic relapse.
- One SDH-intact GIST patient remains in remission 8 years post-diagnosis.
- One patient with imatinib resistance responded to sunitinib, underwent gastrectomy, and remains in remission after local recurrence management.
Conclusions:
- Pediatric GISTs exhibit heterogeneity, particularly regarding SDH deficiency.
- SDH-deficient GISTs may have a recurrent clinical course.
- Comprehensive molecular profiling is crucial for effective treatment strategies in pediatric GISTs.
