Frequency, phenotype, and genotype of minute gastrointestinal stromal tumors in the stomach: an autopsy study
Frequency, phenotype, and genotype of minute gastrointestinal stromal tumors in the stomach: an autopsy study
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DOI：
10.1016/j.humpath.2011.01.024
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发表时间：
2011-12-01
期刊：
影响因子：
3.3
通讯作者：
Dirnhofer, Stephan
中科院分区：
文献类型：
--
作者：
Muenst, Simone;Thies, Svenja;Dirnhofer, Stephan
胃肠道间质瘤是人类消化道最常见的间叶性肿瘤。高达85%的这些肿瘤显示受体酪氨酸激酶c-KIT基因的体细胞功能获得性突变。最近的一项研究表明，在常规尸检中检查的胃中微小胃肠道间质瘤的发生率很高（22.5%）。我们研究的目的是证实先前报道的胃肠道间质瘤在常规尸检中的发生率，并研究其分子改变。在18个月的时间里，从578例尸检中前瞻性地收集了胃肠道间质瘤。记录每个病变的大小和位置后，对代表性组织样本进行苏木精和伊红染色，并对CD 117和CD 34进行化学染色。对所有经鉴定的胃肠道吻合口肿瘤的显微切割DNA进行c-KIT和血小板衍生生长因子受体a突变研究。我们在578例连续尸检中发现了17例胃肠道间质瘤（2.9%），位于胃体（47%）和胃底（47%）。1个肿瘤位置未记录。所有肿瘤均为CD 117和CD 34免疫化学阳性。DNA分析显示11例c-KIT突变。发现1例血小板源性生长因子受体a突变，胃微小型胃肠间质瘤的发病率（2.9%）高于临床报道的发病率。所有这些都是良性肿瘤，大多数，包括微小肿瘤，含有c-KIT突变。这一发现强调了这样一个事实，即c-KIT突变是胃肠道间质瘤演变的早期事件，但本身并不足以治疗临床相关疾病。(C)2011 Elsevier Inc. All rights reserved.
Gastrointestinal stromal tumors are the most common mesenchymal tumors of the human digestive tract. Up to 85% of these tumors show somatic gain-of-function mutation of the receptor tyrosine kinase c-KIT gene. A recent study has shown a high frequency (22.5%) of minute gastrointestinal stromal tumors in stomachs examined during routine autopsies. The aims of our study were to confirm the previously reported incidence of gastric gastrointestinal stromal tumors in routine autopsies and to investigate their molecular alterations. Gastrointestinal stromal tumors were collected prospectively from 578 autopsies over an 18-month period. After recording the size and location of each lesion, representative tissue samples were processed for hematoxylin and eosin staining and immunohistochemically stained for CD117 and CD34. Microdissected DNA from all identified gastrointestinal stomal tumors was studied for c-KIT and platelet-derived growth factor receptor a mutations. We identified 17 gastrointestinal stromal tumors in 578 consecutive autopsies (2.9%) located in the gastric body (47%) and fundus (47%). One tumor location was not recorded. All tumors were immunohistochemically positive for CD117 and CD34. DNA analysis showed c-KIT mutations in 11 cases. One platelet-derived growth factor receptor a mutation was found. The incidence of gastric minute gastrointestinal stromal tumors (2.9%) is higher than the reported clinical incidence. All are benign tumors, and most, including minute tumors, contain c-KIT mutations. This finding highlights the fact that c-KIT mutations are an early event in the evolution of gastrointestinal stromal tumors but are not sufficient per se for clinically relevant disease. (C) 2011 Elsevier Inc. All rights reserved.