Andrzejewska Marta, Czarny Jakub, Skalska-Sadowska Jolanta, Jończyk-Potoczna Katarzyna, Kurzawa Paweł, Wichtowski Mateusz, Wachowiak Jacek, Derwich Katarzyna
Faculty of Medicine, Poznan University of Medical Sciences, Poznan, Poland.
Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland.
J Gastrointest Oncol. 2023 Aug 31;14(4):1887-1893. doi: 10.21037/jgo-22-1111. Epub 2023 Jul 4.
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract, usually found in elderly adults. It is infrequent among pediatric patients and usually differs from adult-type disease in terms of histopathology and molecular features.
We describe the management of the disease in a 10-year-old female patient diagnosed with a GIST of the stomach. In total, she has undergone successively total tumor resection, unsuccessful imatinib treatment and subtotal gastric resection at relapse. The first genetic test from primary tumor confirmed KIT mutations in exons 13 and 17, while the repeated genetic screening using tumor sample from subtotal gastric resection revealed no KIT or platelet-derived growth factor receptor α (PDGFRA) genes mutations. Such dedifferentiation from adult type (thus KIT-mutated) into wild-type (without KIT or PDGFRA mutation) has not been reported so far to the best of our knowledge. Currently, the patient is observed, and no further pharmacological nor surgical treatment has been administered.
The case underlines the importance of genetic profiling combined with non-standard diagnostics (both histopathological and radiological) due to the treatment efficacy prediction. We moreover emphasize the necessity to create worldwide standards on the diagnostics and treatment of GIST in pediatric patients that would include options of targeted therapies.
胃肠道间质瘤（GIST）是胃肠道最常见的间叶性肿瘤，多见于老年人。在儿科患者中并不常见，并且在组织病理学和分子特征方面通常与成人型疾病不同。
我们描述了一名10岁女性胃GIST患者的疾病管理情况。她总共先后接受了肿瘤全切术、伊马替尼治疗失败以及复发时的胃次全切除术。原发肿瘤的首次基因检测证实外显子13和17存在KIT突变，而使用胃次全切除术后肿瘤样本进行的重复基因筛查未发现KIT或血小板衍生生长因子受体α（PDGFRA）基因突变。据我们所知，这种从成人型（即KIT突变型）向野生型（无KIT或PDGFRA突变）的去分化情况此前尚未见报道。目前，该患者正在接受观察，尚未进行进一步的药物或手术治疗。
该病例强调了基因分析结合非标准诊断（包括组织病理学和放射学诊断）对于预测治疗效果的重要性。我们还强调有必要制定全球范围内儿童GIST诊断和治疗的标准，其中应包括靶向治疗方案。
