The clinicopathologic observation, c-KIT gene mutation and clonal status of gastrointestinal stromal tumor in the sacrum.
The clinicopathologic observation, c-KIT gene mutation and clonal status of gastrointestinal stromal tumor in the sacrum.
复制标题
骶骨胃肠道间质瘤的临床病理观察、c-KIT基因突变及克隆状态
DOI：
10.1186/1471-230x-9-43
复制
发表时间：
2009-06-06
影响因子：
2.4
通讯作者：
Zhang W
中科院分区：
文献类型：
--
作者：
Gong L;Li YH;Zhao HD;Zhao JY;Zhang W
研究背景胃肠道间质瘤(GIST)发生在骶骨是非常罕见的。文献中仅有一例发生在骶骨区的GIST伴有颅内转移。在本文中，我们报告了一例罕见的发生在骶骨的GIST，并描述了它的临床病理特征、c-kit基因突变和克隆状态。光镜下，病变由梭形细胞组成，呈索状、针织状和漩涡状排列。病灶内可见骨小梁。瘤细胞胞质丰富，胞核呈梭形。有丝分裂像很少见。免疫组化显示肿瘤细胞CD117和CD34呈阳性反应。突变分析发现c-kit基因外显子11发生突变。克隆分析结果表明GIST是单克隆性的。结论在骶骨中发现了与GIST表型一致的肿瘤物质。GIST很难与其他梭形细胞肿瘤相鉴别，因此需要进行免疫组织化学、c-kit基因扩增和测序检测。
BackgroundIt is very rare that gastrointestinal stromal tumor (GIST) occurs in the sacrum. Only one case of GIST occuring in the sacral region, with intracranial metastasis, has been reported in the literature. Moreover, only few cases have been published in literature about its clonal origin.Case presentationIn this report, we present a rare case of GIST occuring in the sacrum and describe its clinicopathologic features, c-KIT gene mutation and clonal status. Microscopically, the lesion was composed of spindle cells arranged in cords, knitted and whirlpool patterns. Trabecula of bone were found in the lesion. The cytoplasm of tumor cells were abundant, and the nuclei were fusiform. Mitotic figures were rare. Immunohistochemically, the tumor cells showed positive reactivity for CD117 and CD34. On mutation analysis, a c-KIT gene mutation was found in exon 11. The result of clonal analysis demonstrated that the GIST was monoclonal.ConclusionIn summary, we showed that tumor material, phenotypically identical with GISTs was found in the sacrum. It is difficult to differentiate GISTs from other spindle cell tumors, hence the need for immunohistochemistry, the examination of c-KIT gene amplification and sequencing.