一名 4 个月大的男婴，患有结肠系膜胃肠道间质瘤。
A 4-month-old boy with gastrointestinal stromal tumor of mesocolon.
机构信息
a Department of Radiation Oncology, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan, China.
b Department of Pathology, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan, China.
出版信息
Cancer Biol Ther. 2019;20(1):8-14. doi: 10.1080/15384047.2018.1504719. Epub 2018 Sep 25.
Gastrointestinal stromal tumors (GISTs) are very uncommon in pediatric patients, and they are distinct clinical-pathological and molecular deviations from their adult counterparts. Most pediatric GISTs lack the c-kit or platelet-derived growth factor receptor alpha (PDGFRA) genes mutations. To date, there is no published standard guidelines available for the best treatment of pediatric GISTs, especially for infant GIST. Therefore, we report a case of 4-month-old infant with GIST of mesocolon without KIT/PDGFRA mutation. We also review the clinical, biological, and genetic features of pediatric GISTs and re-think several questions that could affect clinical practice.
胃肠道间质瘤（GISTs）在儿科患者中非常罕见，它们在临床病理和分子水平上与成人 GIST 存在明显差异。大多数儿科 GIST 缺乏 c-kit 或血小板衍生生长因子受体 alpha（PDGFRA）基因突变。迄今为止，尚无针对儿科 GIST 最佳治疗方法（尤其是婴儿 GIST）的标准指南。因此，我们报告了一例 4 月龄婴儿患有结肠系膜 GIST，且无 KIT/PDGFRA 突变。我们还回顾了儿科 GIST 的临床、生物学和遗传学特征，并重新思考了可能影响临床实践的几个问题。
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