Golea George Ionut, Ilies Radu Alexandru, Dascalescu Stefana, Morariu Dragos Stefan, Vlad Ioan Catalin
Surgery 1, Cluj County Emergency Clinical Hospital, 400006 Cluj-Napoca, Romania.
Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
J Clin Med. 2025 May 29;14(11):3831. doi: 10.3390/jcm14113831.
Mesenchymal tumors of the gastrointestinal tract are rare and can pose significant diagnostic challenges, particularly when located in atypical sites such as the sigmoid colon. Gastrointestinal stromal tumors (GISTs) are often the primary consideration based on imaging findings; however, other spindle cell neoplasms, such as schwannomas, must also be considered. We present a case of a sigmoid colon schwannoma initially suspected to be a GIST and provide a literature review on the diagnostic and therapeutic challenges associated with these tumors. : A literature review based on articles from 2015 to 2024 was conducted to identify cases of mesenchymal tumors of the colon misdiagnosed as GISTs. The review focused on the role of imaging, endoscopic biopsy, and immunohistochemistry in differentiating these neoplasms. Additionally, treatment approaches, including surgical resection versus targeted therapy, were assessed. : The literature review revealed that GISTs and schwannomas share overlapping imaging characteristics, including submucosal location, hyperintensity on T2-weighted MRI, and contrast enhancement. However, immunohistochemical markers remain the gold standard for differentiation. Studies also highlighted the increasing role of minimally invasive diagnostic techniques, such as fine-needle aspiration and molecular profiling, in achieving a definitive preoperative diagnosis. Unlike GISTs, which often require adjuvant therapy with tyrosine kinase inhibitors, schwannomas are typically treated with surgical excision alone, with a low risk of recurrence. : Current evidence supports a multimodal diagnostic approach combining imaging, biopsy, and immunohistochemistry to accurately classify mesenchymal tumors of the colon. While imaging can suggest a probable diagnosis, histopathological confirmation is essential before initiating targeted therapy.
胃肠道间叶性肿瘤较为罕见，会带来重大的诊断挑战，尤其是当肿瘤位于乙状结肠等非典型部位时。基于影像学表现，胃肠道间质瘤（GIST）通常是首要考虑的疾病；然而，其他梭形细胞瘤，如神经鞘瘤，也必须纳入鉴别诊断。我们报告一例最初被怀疑为GIST的乙状结肠神经鞘瘤病例，并对与这些肿瘤相关的诊断和治疗挑战进行文献综述。：通过检索2015年至2024年发表的文章进行文献综述，以确定被误诊为GIST的结肠间叶性肿瘤病例。该综述聚焦于影像学、内镜活检和免疫组化在鉴别这些肿瘤中的作用。此外，还评估了包括手术切除与靶向治疗在内的治疗方法。：文献综述显示，GIST和神经鞘瘤具有重叠的影像学特征，包括黏膜下位置、T2加权磁共振成像（MRI）上的高信号以及对比增强。然而，免疫组化标志物仍然是鉴别诊断的金标准。研究还强调了微创诊断技术，如细针穿刺抽吸和分子谱分析，在实现明确的术前诊断中发挥着越来越重要的作用。与通常需要酪氨酸激酶抑制剂辅助治疗的GIST不同，神经鞘瘤通常仅通过手术切除治疗，复发风险较低。：目前的证据支持采用影像学、活检和免疫组化相结合的多模式诊断方法，以准确分类结肠间叶性肿瘤。虽然影像学可以提示可能的诊断，但在开始靶向治疗之前，组织病理学确诊至关重要。
