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目的:探讨儿童琥珀酸脱氢酶(succinate dehydrogenase，SDH)缺陷型野生型胃肠道间质瘤(gastrointestinal stromal tumor，GIST)的临床及病理诊断方法、治疗方式及预后情况。方法:天津市儿童医院2018年7月收治1例儿童SDH缺陷型野生型GIST伴肝转移患儿，结合此例资料，检索中国知网、万方、维普数据库、PubMed及SpringerLink中近10年(2009年9月至2019年9月)病例资料并行文献复习。结果:本例病理学检查结果证实为SDH缺陷型野生型GIST，伴肝多发转移，未行靶向药物治疗，术后恢复良好，随访1年肿瘤未出现复发或转移灶增多。检索文献，包括本病例在内近10年共报告26例儿童GIST(总例数为26，后面所示分母数字为26例中具备相应资料的实际例数)，中位年龄11岁，年龄范围为10 d至17岁，80.0%(16/20)存在贫血症状，肿瘤平均直径为5.5 cm，范围为2.6～15.0 cm，CD117阳性率为87.5%(21/24)，DOG-1阳性率为77.3%(17/22)，CD34阳性率75.0%(15/20)；21例获得随访，中位随访时间为16个月，范围为5～79个月，随访期内14.3%(3/21)的患儿出现复发，9.5%(2/21)的患儿带瘤生存，76.2%(16/21)的患儿无病生存。8例行SDH检测的患儿中6例为阴性，6例阴性病例中1例因肿瘤复发死亡，其余5例生存良好。结论:儿童GIST发病率低，儿童SDH缺陷型野生型GIST罕见，手术完全切除是主要的治疗方法，靶向药物对野生型GIST效果不佳，SDH缺陷型野生型GIST的临床进展缓慢，患儿可长期带瘤生存。“,”Objective:To explore the clinical and pathological diagnoses, treatments and prognoses of succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GISTs) in children.Methods:A pediatric case of SDH-deficient gastrointestinal stromal tumor with liver metastasis was reported with a review of the relevant literatures of the last decade from the databases of CNKI, WANFANG, CQVIP, PubMed and SpringerLink.Results:This case was pathologically confirmed as wild-type SDH-deficient GIST with multiple liver metastases. Without targeted drug therapy, recovery was decent. No recurrence or higher metastasis occurred in tumor during a 1-year follow-up. Including this case, a total of twenty-six cases of GIST children were reported over the last decade. The median age was 11 years (10 days to 17 years). And 80.0%(16/20) had anemia. The average tumor diameter was 5.5(2.6-15.0) cm, CD117 positive rate 87.5%(21/24), DOG-1 positive rate 77.3%(17/22) and CD34 positive rate 75.0% (15/20). Twenty-one patients were followed up for a median follow-up period of 16(5-79) months. During follow-ups, 14.3%(3/21) had recurrence, 9.5% (2/21) survived with tumor and 76.2%(16/21) had disease-free survival. SDH was positive (n=8) and negative (n=6). There was one death due to tumor recurrence and the remainder survived well.Conclusions:GIST has a low incidence and wild-type SDH-deficient GIST is quite rare in children. Complete surgical resection is a major treatment. Targeted drugs have poor efficacies for wild-type GIST. The clinical progress of wild-type SDH-deficient GIST is slow so that children may survive with tumors for a long time.