Yang Xinxi, Yang Peng, Guo Pengsen, Nie Pan, Chen Yuanyuan, Liu Yanjun, Wu Yingxin
Section for Gastrointestinal Surgery, Department of General Surgery, The Third People's Hospital of Chengdu (Affiliated Hospital of Southwest Jiaotong University), Chengdu, Sichuan, China.
College of Medicine, Southwest Jiaotong University, Chengdu, Sichuan, China.
Am J Case Rep. 2025 May 18;26:e947545. doi: 10.12659/AJCR.947545.
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.
背景 胃肠道间质瘤（GISTs）是胃肠道肿瘤中罕见的一个亚群，约85%的病例具有KIT基因或血小板衍生生长因子受体α（PDGFRA）基因的遗传改变。相比之下，琥珀酸脱氢酶缺陷型胃肠道间质瘤（SDH缺陷型GIST）仅占病例的5 - 10%。SDH缺陷型GIST是一种罕见的胃肠道肿瘤形式，主要影响年轻人和女性。它通常表现为多灶性病变，有侵袭淋巴结的倾向，病程进展缓慢，对伊马替尼反应不佳；舒尼替尼和瑞戈非尼可能对其有效。对于可切除病变的患者，手术干预仍然是治疗的基石。病例报告 一名26岁男性患者因黑便症状入院。随后的诊断评估发现存在多个胃部肿瘤。他接受了腹腔镜远端胃切除术以治疗多个胃部肿瘤，术后病理结果与SDH缺陷型GIST一致。对KIT、PDGFRA、KRAS、NRAS、BRAF、SDHA、SDHB、SDHC、SDHD和NF1进行基因检测未发现突变。该患者仍在接受随访，术后6个月未发现复发迹象。结论 尽管SDH缺陷型GIST通常表现出惰性生物学行为，但如本病例中观察到的胃肠道出血等具有临床意义的表现偶尔会出现。该患者术后出血症状的缓解证明了手术干预的治疗效果。本病例强调了及时进行手术管理的重要性，同时突出了提高诊断准确性和优化治疗方案的必要性。本报告为SDH缺陷型GIST的预后评估和临床决策提供了有价值的临床见解，同时也为未来新型靶向治疗的研究提供了参考。
