Pediatric Gastric GIST With SDHA Truncation Despite Retained SDHB Staining: A Case Report.
Riho Tanimura, Mari Korogi, Ryo Otaka et al.
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Case in brief
A 14-year-old boy presented with a gastric GIST, which was positive for KIT and DOG1. Genetic analysis revealed a truncating variant in the SDHA gene, indicating SDH deficiency. Interestingly, immunohistochemical staining for SDHB remained strongly positive, despite the molecular findings. This case highlights the importance of comprehensive molecular testing in suspected SDH-deficient GISTs.
Diagnostic / clinical pearl
Clinicians should be aware that retained SDHB staining does not rule out SDH-deficient GIST, necessitating thorough molecular testing in such cases.
Why it matters
This case underscores the potential for false reassurance from SDHB positivity, emphasizing the need for comprehensive testing to guide patient management and surveillance.