Miwa Shigeharu, Nakajima Takahiko, Murai Yoshihiro, Takano Yasuo, Sugiyama Toshiro
Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.
J Gastroenterol. 2008;43(7):531-7. doi: 10.1007/s00535-008-2195-4. Epub 2008 Jul 23.
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.
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.
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.
Based on four cases, the DOG1 gene was found not to be mutated in GISTs.
最近，发现新基因DOG1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。DOG1可能在GIST的发生发展中起作用，并有作为诊断标志物和治疗靶点的潜力，但尚未对其生物学功能和过表达机制进行研究。在本研究中，我们检测了DOG1基因是否像KIT基因和PDGFRA基因那样发生突变。
我们研究了10例手术切除的原发性GIST组织。所有病例均检测KIT和DOG1的免疫反应性，并通过直接DNA测序筛查KIT基因（第9、11、13和17外显子）和PDGFRA基因（第12、14和18外显子）的突变。对4例DNA质量相对较好的病例分析DOG1基因（第1 - 26外显子）的突变情况。
所有10例GIST均显示KIT免疫反应性。虽然所有病例在免疫组织化学中均表达DOG1，但在4例分析病例的DOG1基因的所有26个外显子（共104个外显子）中均未发现任何突变。
基于4例病例，发现DOG1基因在GIST中未发生突变。
