Journal of pediatric hematology/oncology · 2026
Pediatric Gastric GIST With SDHA Truncation Despite Retained SDHB Staining: A Case Report.
СтатьяКлинический случайНазвание и аннотация: Перевод пока не подготовлен
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Tanimura Riho, Korogi Mari, Otaka Ryo, Jones Robin L
Аннотация
BACKGROUND: Loss of SDHB by immunohistochemistry (IHC) is a practical screening marker for SDH-deficient GIST.
OBSERVATION: A 14-year-old boy had a gastric GIST (KIT/DOG1 positive). Next-generation sequencing identified a truncating SDHA variant (c.1401T>A, p.Cys467Ter). Notably, SDHB IHC was strongly positive despite molecular evidence of SDH deficiency.
CONCLUSIONS: Retained SDHB staining does not exclude SDH-deficient GIST. When clinicopathologic features suggest SDH deficiency, comprehensive molecular testing-including germline assessment-should be pursued, even in the context of SDHB positivity, to avoid false reassurance and to inform counseling and surveillance.
OBSERVATION: A 14-year-old boy had a gastric GIST (KIT/DOG1 positive). Next-generation sequencing identified a truncating SDHA variant (c.1401T>A, p.Cys467Ter). Notably, SDHB IHC was strongly positive despite molecular evidence of SDH deficiency.
CONCLUSIONS: Retained SDHB staining does not exclude SDH-deficient GIST. When clinicopathologic features suggest SDH deficiency, comprehensive molecular testing-including germline assessment-should be pursued, even in the context of SDHB positivity, to avoid false reassurance and to inform counseling and surveillance.