Popoiu Tudor-Alexandru, Pîrvu Cãtãlin-Alexandru, Popoiu Cãlin-Marius, Iacob Emil Radu, Talpai Tamas, Voinea Amalia, Albu Rãzvan-Sorin, Tãban Sorina, Bãlãnoiu Larisa-Mihaela, Pantea Stelian
Department of General Surgery, "Victor Babeş" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Department III of Functional Sciences, Discipline of Medical Informatics and Biostatistics, "Victor Babeş" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Children (Basel). 2024 Aug 26;11(9):1040. doi: 10.3390/children11091040.
Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that primarily affect adults, with pediatric cases constituting only 0.5-2.7% of the total. Pediatric GISTs present unique clinical, genetic, and pathological features that distinguish them from adult cases. This literature review aims to elucidate these differences, emphasizing diagnostic and therapeutic challenges. We discuss the resistance of pediatric GISTs to conventional chemotherapy and highlight the importance of surgical intervention, especially in emergency situations involving intra-abdominal bleeding. The review also explores the molecular characteristics of pediatric GISTs, including rare mutations such as quadruple-negative wild-type GIST with an FGF3 gene gain mutation. To illustrate these points, we conclude with a case from our clinic involving a 15-year-old female with multiple CD117-positive gastric GISTs and a quadruple-negative wild-type genetic profile who required urgent surgical intervention following a failed tumor embolization. This case underscores the critical need for early diagnosis and individualized therapeutic strategies combining oncologic and surgical care to improve outcomes in pediatric GIST patients.
胃肠道间质瘤（GISTs）是罕见的间叶性肿瘤，主要影响成年人，儿科病例仅占总数的0.5-2.7%。儿科GISTs具有独特的临床、遗传和病理特征，使其有别于成人病例。这篇文献综述旨在阐明这些差异，强调诊断和治疗方面的挑战。我们讨论了儿科GISTs对传统化疗的耐药性，并强调手术干预的重要性，特别是在涉及腹腔内出血的紧急情况下。该综述还探讨了儿科GISTs的分子特征，包括罕见的突变，如具有FGF3基因增益突变的四重阴性野生型GIST。为了说明这些要点，我们以我们诊所的一个病例作为结尾，该病例涉及一名15岁女性，患有多个CD117阳性胃GISTs，具有四重阴性野生型基因谱，在肿瘤栓塞失败后需要紧急手术干预。该病例强调了早期诊断和结合肿瘤学与手术治疗的个体化治疗策略对于改善儿科GIST患者预后的迫切需求。
