Mutation assay of the novel gene DOG1 in gastrointestinal stromal tumors (GISTs)
Mutation assay of the novel gene DOG1 in gastrointestinal stromal tumors (GISTs)
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DOI：
10.1007/s00535-008-2195-4
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发表时间：
2008-07-01
影响因子：
6.3
通讯作者：
Sugiyama, Toshiro
中科院分区：
文献类型：
--
作者：
Miwa, Shigeharu;Nakajima, Takahiko;Sugiyama, Toshiro
背景最近，新基因DOG 1已被发现在大多数胃肠道间质瘤（GIST）中过表达，特别是在软组织肿瘤领域。DOG 1可能在GISTs的发生发展中发挥作用，并有可能作为诊断标志物和治疗靶点，但其生物学功能和过表达机制尚未得到研究。在这项研究中，我们研究了DOG 1基因突变是否与KIT基因和PDGFRA基因一样发生。方法.我们研究了十个切除的原发性GIST组织。所有病例均检测KIT和DOG 1的免疫反应性，并通过直接DNA测序筛选KIT基因（外显子9、11、13和17）和PDGFRA基因（外显子12、14和18）的突变。4例DNA质量相对较好的病例进行DOG 1基因（外显子1 - 26）突变分析。结果所有10个GIST均显示KIT免疫反应性。虽然所有病例在免疫组化中表达DOG 1，但我们在4例分析病例中DOG 1基因的所有26个外显子（共104个外显子）中未发现任何突变。结论.基于4例病例，发现DOG 1基因在GIST中未发生突变。
Background. Recently, the novel gene DOG1 has been found to be overexpressed in most gastrointestinal stromal tumors (GISTs) specifically within the field of soft tissue tumors. DOG1 might play a role in development of GISTs and have potential as a diagnostic marker and therapeutic target, but the biological function and the overexpression mechanism have not yet been investigated. In this study we examined whether the DOG1 gene mutation occurs as with the KIT gene and PDGFRA gene. Methods. We investigated ten resected primary GIST tissues. All cases were examined for immunoreactivity for KIT and DOG1 and screened for mutation in the KIT gene (exons 9, 11, 13, and 17) and the PDGFRA gene (exons 12, 14, and 18) by direct DNA sequencing. Four cases with relatively good quality DNA were analyzed for the DOG1 gene (exons 1 - 26) mutation. Results. All ten GISTs showed immunoreactivity for KIT. Although all cases expressed DOG1 in immunohistochemistry, we could not find any mutations within all 26 exons (a total of 104 exons) of the DOG1 gene in the four analyzed cases. Conclusions. Based on four cases, the DOG1 gene was found not to be mutated in GISTs.