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Multiple Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors of the Stomach: A Case Report

Xinxi Yang,Peng Yang,Pengsen Guo,Pan Nie,Yuanyuan Chen,Yanjun Liu,Yingxin Wu

Published 2025 in The American journal of case reports

ABSTRACT

Patient Male, 27-year-old Final Diagnosis Succinate dehydrogenase-deficient gastrointestinal stromal tumor (SDH-deficient GIST) Symptoms Melena Clinical Procedure — Specialty Surgery Objective Rare coexistence of disease or pathology Background Gastrointestinal stromal tumors (GISTs) are a rare subset of gastrointestinal neoplasms, with approximately 85% of cases being characterized by genetic alterations in either the KIT gene or the platelet-derived growth factor receptor alpha (PDGFRA) gene. In contrast, succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GIST) account for only 5–10% of cases. SDH-deficient GISTs is a rare form of gastrointestinal tumor, predominantly affecting young people and women. It typically presents with multifocal lesions, has a tendency to invade lymph nodes, follows an indolent course, and is poorly responsive to imatinib; sunitinib and regorafenib may be effective against it. For patients with resectable lesions, surgical intervention remains the cornerstone of treatment. Case Report A 26-year-old male patient was admitted with the presenting symptom of melena. Subsequent diagnostic evaluations revealed the presence of multiple gastric neoplasms. He underwent laparoscopic distal gastrectomy for multiple gastric tumors and postoperative pathology was consistent with GIST, SDH-deficient type. Genetic testing for KIT, PDGFRA, KRAS, NRAS, BRAF, SDHA, SDHB, SDHC, SDHD, and NF1 showed no mutations. The patient is still being followed and no evidence of relapse has been found 6 months postoperatively. Conclusions Although SDH-deficient GISTs generally exhibit indolent biological behavior, clinically significant manifestations such as gastrointestinal bleeding, as observed in this case, occasionally occur. The postoperative resolution of hemorrhagic symptoms in this patient demonstrated the therapeutic efficacy of surgical intervention. This case underscores the importance of timely surgical management while highlighting the need for improved diagnostic precision and optimized treatment algorithms. The present report provides valuable clinical insights for prognostic evaluation and clinical decision-making in SDH-deficient GISTs, while also offering a reference for future investigations into novel targeted therapies.

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