琥珀酸脱氢酶缺陷型胃肠道间质瘤1例并文献复习  

One case of succinate dehydrogenase-deficient gastrointestinal stromal tumor and literature review

作　　者：张秀萍 林彧夫 郑景妹 张世龙 ZHANG Xiuping;LIN Yufu;ZHENG Jingmei;ZHANG Shiong(Department of Oncology,Zhongshan Hospital Affiliated to Fudan University(Xiamen Branch),Fujian,Xiamen 361015,China;Department of Pathology,Zhongshan Hospital Affiliated to Fudan University(Xiamen Branch),Fujian,Xiamen 361015,China;Department of Oncology,Zhongshan Hospital Affiliated to Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院(厦门)肿瘤内科,福建厦门361015 [2]复旦大学附属中山医院(厦门)病理科,福建厦门361015 [3]复旦大学附属中山医院肿瘤内科,上海200032

出　　处：《中国医药科学》2024年第10期184-187,共4页China Medicine And Pharmacy

基　　金：福建省卫生健康青年科研课题(2021QNB020)。

摘　　要：琥珀酸脱氢酶(SDH)缺陷型胃肠道间质瘤(GIST)是一组独特的GIST,患者以中青年女性居多,临床表现无特异性。组织病理学特征以上皮细胞型为主,生长方式多呈丛状或多结节方式生长。诊断依赖于病理免疫组织化学SDHB阴性或弱阳性。手术切除仍然是可切除的SDH缺陷型GIST的首选治疗,传统靶向治疗疗效有限。本文介绍1例31岁的女性SDH缺陷型GIST病例,该患者因体检发现腹腔巨大占位,而后顺利进行手术切除,病理提示SDH缺陷型GIST,术后7个月复发,未治疗,规律随访,目前病灶仍稳定。此外,本文还进行了文献复习,以了解SDH缺陷型GIST的临床表现和病理特征,以便及时诊断和管理SDH缺陷型GIST。Succinate dehydrogenase(SDH)-deficient gastrointestinal stromal tumors(GIST)are a unique subset of GISTs,which occur predominately in middle-aged and young women and have no specific clinical manifestation.According to histopathological examination,the tumor tissues are mainly epithelial type,and the growth pattern is mostly clustered or multinodular.The diagnosis depends on negative or weakly positive SDHB immunohistochemistry results.For resectable SDH-deficient GIST,surgical removal is still the first choice of treatment,and traditional targeted therapy has limited efficacy.This paper introduced a 31-years-old female case with SDH-deficient GIST.The patient was found to have an abdominal mass during physical examination,and then underwent surgical resection smoothly.Pathological examination showed SDH-deficient GIST,which recurred 7 months after surgery.The patient received no further treatment,but conducted regular follow-up,with the lesion still stable.Moreover,this paper also conducted a literature review on the clinical manifestations and pathological characteristics of SDH-deficient GIST,aiming to timely diagnose and manage patients with SDH-deficient GIST.

关 键 词：胃肠道间质瘤 琥珀酸脱氢酶缺陷 免疫组化 基因检测 

分 类 号：R735[医药卫生—肿瘤]