ArticleJournal of surgical case reports2026
Gastric GIST with life-threatening anaemia and paraganglioma: a rare presentation of suspected Carney-Stratakis syndrome in a young adult.
Article in Journal of surgical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Gastrointestinal stromal tumours (GISTs) rarely occur in young adults; in this age group, succinate dehydrogenase (SDH)-deficient subtypes predominate and may signal hereditary tumor syndromes. We present a 23-year-old male with a prior carotid paraganglioma who developed life-threatening iron deficiency anaemia (haemoglobin 4.0 g/dl) as the presenting manifestation of a high-grade gastric GIST. Subtotal gastrectomy with Billroth II reconstruction achieved R0 resection. Molecular testing was negative for KIT and PDGFRA mutations. Given the patient's age, mixed epithelioid/spindle histology, wild-type molecular profile, and paraganglioma history, Carney-Stratakis syndrome was suspected. SDHB immunohistochemistry confirmed an SDH-deficient phenotype, and germline testing identified a pathogenic heterozygous SDHx variant, establishing the diagnosis of Carney-Stratakis syndrome. At follow-up, the patient was clinically stable and enrolled in a multidisciplinary surveillance program. This case highlights the importance of recognizing atypical hematologic presentations of GIST and the need for comprehensive molecular and genetic evaluation in young patients.
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