Zhang Y J, Cheng Y H, Guo L X, Wang N Q, Liu H
Department of Pathology, Guizhou Medical University and the Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China.
Zhonghua Bing Li Xue Za Zhi. 2018 Apr 8;47(4):252-257. doi: 10.3760/cma.j.issn.0529-5807.2018.04.005.
To investigate the expression of succinate dehydrogenase complex subunit protein in succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GISTs). Three hundred fifty-two cases of GISTs were collected from January 2003 to January 2017 at the Affiliated Hospital of Guizhou Medical University and West China Hospital of Sichuan University.The expression of succinate dehydrogenase subunit protein was detected by immunohistochemical EnVision technique in 352 cases of GISTs, and the negative cases were analyzed for clinicopathologic features and outcome. The gene segments of CKIT exons 9, 11, 13 and 17 and PDGFRA exons 12 and 18 were amplified and detected in SDH-deficient (negative) cases. A total of 15 SDHB-deficient (negative) GISTs (4.3%, 15/352) were found among 352 cases of GISTs. Six patients were male and nine were female. The age of initial diagnosis ranged from 15 to 84 years (median=53 years, mean=47 years). The tumor involved stomach (14 cases) and mesentery (1 case). The tumor sizes varied from 0.5 cm to 15.0 cm (mean=6.9 cm). There were six, six and three cases of epithelioid, mixed and spindle cell types respectively. Eight cases showed multi-nodularity in the wall of stomach. Metastasis to lymph node was noted in four cases, one case showed intraperitoneal implantation metastasis. Metastases to liver, pancreas and lymph node were found in one case, and one case showed vascular invasion. Among SDHB-deficient GISTs, two SDHA-deficient (negative) cases were found (0.6%, 2/352), but there were no SDHC and SDHD deficient (negative) cases. Five of the fifteen SDH-deficient GISTs had follow-up data: one patient died 8 months after surgery from unknown cause, four had no recurrences or metastases, and there was no history of paraganglioma and pulmonary chondroma found in patients and their families. No mutation in CKIT and PDGFRA gene was identified in 15 cases of SDH-deficient GISTs. SDH-deficient GISTs have unique clinicopathologic features and a favorable prognosis, and a small proportion of cases are SDHA-deficient.
研究琥珀酸脱氢酶缺乏型胃肠道间质瘤（SDH缺乏型GIST）中琥珀酸脱氢酶复合亚基蛋白的表达情况。2003年1月至2017年1月期间，从贵州医科大学附属医院和四川大学华西医院收集了352例GIST病例。采用免疫组织化学EnVision技术检测352例GIST中琥珀酸脱氢酶亚基蛋白的表达，并对阴性病例的临床病理特征及预后进行分析。对SDH缺乏（阴性）病例进行CKIT基因第9、11、13和17外显子以及PDGFRA基因第12和18外显子的基因片段扩增及检测。在352例GIST中，共发现15例SDHB缺乏（阴性）GIST（4.3%，15/352）。男性6例，女性9例。初诊年龄为15至84岁（中位数 = 53岁，平均 = 47岁）。肿瘤累及胃（14例）和肠系膜（1例）。肿瘤大小为0.5 cm至15.0 cm（平均 = 6.9 cm）。上皮样、混合型和梭形细胞型分别有6例、6例和3例。8例胃壁见多结节状。4例出现淋巴结转移，1例出现腹腔种植转移。1例出现肝、胰和淋巴结转移，1例出现血管侵犯。在SDHB缺乏型GIST中，发现2例SDHA缺乏（阴性）病例（0.6%，2/352），但未发现SDHC和SDHD缺乏（阴性）病例。15例SDH缺乏型GIST中有5例有随访资料：1例患者术后8个月因不明原因死亡，4例无复发或转移，患者及其家族中未发现副神经节瘤和肺软骨瘤病史。15例SDH缺乏型GIST中未检测到CKIT和PDGFRA基因的突变。SDH缺乏型GIST具有独特的临床病理特征和良好的预后，且一小部分病例为SDHA缺乏型。
