琥珀酸脱氢酶缺陷型胃肠道间质瘤12例临床病理特征分析

Q4 Medicine

肿瘤研究与临床 Pub Date : 2019-11-28 DOI:10.3760/CMA.J.ISSN.1006-9801.2019.11.013

Lin Wang, Weiwei Li, Guowei Ma

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引用次数: 0

摘要

Objective To investigate the clinical and pathological characteristics of succinate dehydrogenase (SDH) deficient gastrointestinal stromal tumors (GIST). Method: A retrospective analysis was conducted on the clinical and pathological data of 12 patients with SDH deficient GIST at the First People's Hospital of Tianmen City, Hubei Province from June 2010 to January 2016; Immunohistochemical method was used to detect SDH subunit B (SDHB), CD117, DOG-1, CD34, Desmin, smooth muscle actin (SMA), and S-100. Gene detection of c-kit exons 9, 11, 13, 17, and platelet derived growth factor receptor was performed α (PDGFR α） Exons 12 and 18, and review relevant literature. Results Nodular or lobulated tumors were more common, with a diameter of 3-7 cm; The tumor cells are mainly epithelioid, with 6 cases showing intravascular tumor thrombi. 12 cases of c-kit and PDGFRA were all wild-type in gene testing, while 12 cases of immunohistochemistry showed negative SDHB, positive expression of CD117, DOG-1, and CD34, and negative expression of SMA, desmin, and S-100 proteins. Conclusion: Combining the pathological characteristics of tumors, immunohistochemistry of SDHB protein, c-kit, and gene detection of PDGFRA can diagnose SDH deficient GIST. The biological behavior of such tumors is inert, and molecular targeted therapy has little benefit.

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Succinate dehydrogenase-deficient gastrointestinal stromal tumor: analysis of clinicopathological features of 12 cases

目的探讨琥珀酸脱氢酶（SDH）缺陷型胃肠间质瘤（GIST）的临床病理特征。方法回顾性分析湖北省天门市第一人民医院2010年6月至2016年1月12例SDH缺陷型GIST患者的临床及病理资料；应用免疫组织化学法检测SDH亚单位B（SDHB）及CD117、DOG-1、CD34、Desmin、平滑肌肌动蛋白（SMA）和S-100，基因检测c-kit外显子第9、11、13、17号和血小板源生长因子受体α（PDGFRα）外显子第12、18号，并复习相关文献。结果结节状或分叶状肿瘤多见，直径3~7 cm；肿瘤细胞以上皮样为主，其中6例可见脉管内瘤栓。12例基因检测c-kit和PDGFRA均为野生型，免疫组织化学12例中SDHB均阴性，CD117、DOG-1、CD34均阳性表达，SMA、desmin、S-100蛋白皆阴性。结论综合肿瘤病理特征及SDHB蛋白免疫组织化学、c-kit和PDGFRA的基因检测可确诊SDH缺陷型GIST，此类肿瘤生物学行为呈惰性特征，分子靶向治疗极少获益。

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来源期刊

肿瘤研究与临床 Medicine-Oncology

CiteScore

0.10

自引率

0.00%

发文量

7737

期刊介绍： "Cancer Research and Clinic" is a series of magazines of the Chinese Medical Association under the supervision of the National Health Commission and sponsored by the Chinese Medical Association. It mainly reflects scientific research results and academic trends in the field of malignant tumors. The main columns include monographs, guidelines and consensus, standards and norms, treatises, short treatises, survey reports, reviews, clinical pathology (case) discussions, case reports, etc. The readers are middle- and senior-level medical staff engaged in basic research and clinical work on malignant tumors.