Gastrointestinal stromal tumors of the small intestine in pediatric populations: a case report and literature review.
Gastrointestinal stromal tumors of the small intestine in pediatric populations: a case report and literature review.
复制标题
儿科人群小肠胃肠道间质瘤：病例报告和文献综述。
DOI：
10.1007/s00383-010-2596-3
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发表时间：
2010
期刊：
影响因子：
--
通讯作者：
Ohdan H.
中科院分区：
文献类型：
--
作者：
Shimomura M;Ikeda S;Takakura Y;Kawaguchi Y;Tokunaga M;Takeda H;Sumitani D;Yoshimitsu M;Hinoi T;Okajima M;Ohdan H.
一名 18 岁女孩出现腹痛，随后在空肠中发现肿瘤。因此，我们进行了空肠楔形切除术。 GIST的诊断经过组织学证实，并观察到c-kit基因的外显子9突变。 GIST 在儿科人群中很少见，儿科 GIST 主要发生在女性中，其特征是胃部多灶性定位和 c-kit 基因野生型表型。儿童小肠 GIST 的特征尚未分类，迄今为止，仅报告了 11 例 18 岁以下患者的病例。这些病例并不主要发生在女性中，并且往往表现为 c-kit 基因突变的单个肿瘤。这表明这些病例并不具有与儿童胃胃肠道间质瘤相同的特征，而是与成人胃肠道间质瘤相似。在儿科人群中，由于 c-kit 基因的改变，小肠 GIST 预计比胃 GIST 对伊马替尼治疗表现出更好的反应。
An 18-year-old girl presented with abdominal pain and a tumor was subsequently detected in the jejunum. We therefore carried out a wedge resection of the jejunum. The diagnosis of GIST was confirmed histologically, and a mutation in exon 9 of the c-kit gene was observed. GISTs are rare in pediatric populations and pediatric GISTs occur predominantly in females and are characterized by a multifocal gastric location and a wild-type phenotype for the c-kit genes. The features of pediatric GISTs of the small intestine have not yet been categorized, and to date, only 11 cases in patients younger than 18 years have been reported. These cases did not occur primarily in females and tended to present as single tumors with mutations in the c-kit gene. This suggests that these cases do not have the same features as pediatric gastric GISTs, but instead are similar to adult GISTs. In pediatric populations, GISTs of the small intestine were expected to show a better response to imatinib treatment than gastric GISTs because of the alterations in the c-kit gene.