Liu Weizhen, Zeng Xiangyu, Wu Xiuli, He Jun, Gao Jinbo, Shuai Xiaoming, Wang Guobin, Zhang Peng, Tao Kaixiong
Department of Gastrointestinal Surgery Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Medicine (Baltimore). 2017 Aug;96(32):e7668. doi: 10.1097/MD.0000000000007668.
Gastrointestinal stromal tumors (GISTs) that are not driven by kinase mutations, as are most GISTs, often show loss of function of the succinate dehydrogenase (SDH) complex and are considered SDH-deficient GISTs. SDH-deficient GISTs share many distinct characteristics compared with conventional GISTs. However, data regarding these characteristics, particularly among Asian people, are relatively limited. The objective of this study was to characterize the clinicopathologic characteristics, treatment, and prognosis of these uncommon GISTs.This retrospective observational study enrolled 12 patients with SDH-deficient GISTs, who were selected from 335 patients with GIST diagnosed at our institution between October 31, 2013 and October 31, 2016 by succinate dehydrogenase subunit B staining.There were 8 male and 4 female patients, with a median age of 57 years (range, 21-73 years). Ten patients (83.3%) were diagnosed at or after the age of 40 years and represented 7.2% (10/138) of the entire population of elderly patients with gastric GISTs. The tumor size ranged from 3 to 19 cm (median, 7 cm); the primary tumor was multifocal in 6 cases (50%), and tumors had a multinodular or plexiform architecture in 10 cases (83.3%). Ten cases (83.3%) showed pure epithelioid morphology, with the remaining 2 cases (16.7%) showing mixed histologic subtype. Lymph node metastasis was found at the time of primary resection in 50% (3/6) of patients. Four cases (33.3%) had distant metastasis at presentation. Four patients (33.3%) developed disease progression during imatinib treatment after initial resection, but all of these patients regained disease control when the treatment was altered to sunitinib targeted therapy.SDH-deficient GISTs arise exclusively in the stomach and account for approximately 7.4% (12/162) of gastric GISTs. Moreover, those affecting people older than 40 years are not uncommon and sunitinib may work well for cases showing treatment failure with imatinib.
与大多数胃肠道间质瘤（GIST）不同，非激酶突变驱动的GIST通常表现为琥珀酸脱氢酶（SDH）复合体功能丧失，被认为是SDH缺陷型GIST。与传统GIST相比，SDH缺陷型GIST具有许多不同的特征。然而，关于这些特征的数据，尤其是亚洲人群的数据相对有限。本研究的目的是描述这些罕见GIST的临床病理特征、治疗及预后。这项回顾性观察性研究纳入了12例SDH缺陷型GIST患者，这些患者是从2013年10月31日至2016年10月31日在我院确诊的335例GIST患者中通过琥珀酸脱氢酶亚基B染色筛选出来的。患者中男性8例，女性4例，中位年龄57岁（范围21 - 73岁）。10例患者（83.3%）在40岁及以后确诊，占老年胃GIST患者总数的7.2%（10/138）。肿瘤大小为3至19厘米（中位值7厘米）；6例（50%）原发性肿瘤为多灶性，10例（83.3%）肿瘤具有多结节或丛状结构。10例（83.3%）表现为纯上皮样形态，其余2例（16.7%）为混合组织学亚型。50%（3/6）的患者在初次切除时发现有淋巴结转移。4例（33.3%）初诊时已有远处转移。4例患者（33.3%）在初次切除后接受伊马替尼治疗期间病情进展，但当治疗改为舒尼替尼靶向治疗后，所有这些患者的病情都重新得到了控制。SDH缺陷型GIST仅发生于胃，约占胃GIST的7.4%（12/162）。此外，40岁以上人群中患此类疾病的并不罕见，舒尼替尼可能对伊马替尼治疗失败的病例有效。
