Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours
Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours
复制标题
家族性和多发性胃肠道间质瘤患者卡贾尔间质细胞弥漫性增生的多克隆性质
DOI：
10.1136/gut.51.6.793
复制
发表时间：
2002-12-01
期刊：
影响因子：
24.5
通讯作者：
Kitamura, Y
中科院分区：
文献类型：
--
作者：
Chen, H;Hirota, S;Kitamura, Y
背景：在家族性和多发性胃肠道间质瘤（gist）患者中，已经描述了肠肌丛层Cajal间质细胞（ICCs）的弥漫性增殖。然而，目前尚不完全清楚增殖是多克隆还是单克隆。目的：利用人雄激素受体（HUMARA）基因座失活的方法，对家族性和多发性GIST患者弥漫性ICC增殖进行克隆性分析。材料和方法：采用激光捕获显微解剖（LCM）系统对3例女性患者的弥漫性ICC增殖组织进行显微解剖。同时对同一患者的正常肠黏膜组织进行显微解剖，作为多克隆对照，对胃肠道间质瘤组织进行单克隆对照，并提取基因组DNA。用限制性内切酶Hhal酶切后，用荧光聚合酶链反应（PCR）扩增HUMARA基因座，并对PCR产物进行分析。结果：1例在HUMARA基因座为纯合子，资料不足。在另外两例中，弥漫性ICC增殖的PCR产物与正常肠粘膜组织的PCR产物一样，显示出两个等位基因，表明ICC的增殖是多克隆的。相比之下，相关GIST组织的PCR产物仅显示1个等位基因，表明GIST是单克隆的。结论：家族性和多发性GIST患者弥漫性ICC增生为非肿瘤性增生。
Background: Diffuse proliferation of interstitial cells of Cajal (ICCs) in the myenteric plexus layer of the intestine has been described in patients with familial and multiple gastrointestinal stromal tumours (GISTs). However, it is not fully understood whether proliferation is polyclonal or monoclonal.Aims: To evaluate the clonal nature of diffuse ICC proliferation in familial and multiple GIST cases, we carried out clonal analysis using inactivation at the human androgen receptor (HUMARA) locus.Materials and methods: Diffuse ICC proliferation tissues from three female patients were microdissected using a laser capture microdissection (LCM) system. Normal intestinal mucosal tissues were also microdissected for polyclonal controls and GIST tissues for monoclonal controls from the same patients, and genomic DNA was extracted. After digestion by restriction enzyme Hhal, the HUMARA locus was amplified by a fluorescent polymerase chain reaction (PCR) procedure and the PCR products were analysed.Results: One case was uninformative because it was homozygous at the HUMARA locus. In the two other cases, PCR products from the diffuse ICC proliferation showed two alleles as well as those from normal intestinal mucosal tissues, indicating that ICC proliferation was polyclonal. In contrast, PCR products from associated GIST tissues showed only one allele,indicating that GISTs were monoclonal. Conclusion: The results suggested that diffuse ICC proliferation in familial and multiple GIST cases was non-neoplastic hyperplasia.