Zaiem A, Ben Mahmoud A, Sebai A, Atri S, Daghfous A, Kacem J M
General Surgery "A" Department, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunis, Tunisia.
General Surgery "A" Department, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunis, Tunisia.
Int J Surg Case Rep. 2025 Jul 11;134:111664. doi: 10.1016/j.ijscr.2025.111664.
Gastrointestinal stromal tumors (GISTs) are considered rare but they are common mesenchymal tumors of the digestive tract. Their occurrence in the esophagus is extremely rare, often leading to diagnostic confusion with leiomyomas, the most prevalent mesenchymal tumors in this location.
We report the case of a 28-year-old woman with a 3-year history of progressive dysphagia and intermittent chest pain. Imaging revealed a compressive bilobed mass in the lower third of the esophagus. Endoscopic ultrasound and fine needle aspiration suggested an esophageal leiomyoma. Surgical enucleation via right postero-lateral thoracotomy was performed, and histopathology confirmed an 8 cm esophageal GIST with moderate risk of recurrence. Immunohistochemistry showed CD117 positivity, leading to the initiation of adjuvant Imatinib therapy. The patient remained asymptomatic at 6-month follow-up, with no evidence of recurrence.
Esophageal GISTs account for less than 1 % of all GISTs and can closely mimic leiomyomas radiologically and histologically. This overlap often results in misdiagnosis. Imaging modalities and endoscopic techniques may be insufficient to distinguish between these entities. Definitive diagnosis relies on immunohistochemical markers, particularly CD117 and CD34. Surgical resection remains the mainstay of treatment, and adjuvant therapy is recommended based on risk stratification.
This case underscores the importance of considering GIST in the differential diagnosis of esophageal submucosal tumors. Comprehensive histopathological and immunohistochemical analysis is essential for accurate diagnosis and appropriate therapeutic planning, especially given the implications for long-term outcomes and recurrence risk.
胃肠道间质瘤（GISTs）虽被认为罕见，但却是消化道常见的间叶组织肿瘤。其在食管中的发生极为罕见，常导致与平滑肌瘤的诊断混淆，平滑肌瘤是该部位最常见的间叶组织肿瘤。
我们报告一例28岁女性，有3年进行性吞咽困难和间歇性胸痛病史。影像学检查显示食管下三分之一处有一个压迫性双叶肿块。内镜超声和细针穿刺提示为食管平滑肌瘤。通过右后外侧开胸手术进行了肿瘤摘除术，组织病理学证实为一个8厘米的食管GIST，复发风险为中度。免疫组织化学显示CD117阳性，因此开始辅助伊马替尼治疗。患者在6个月的随访中无症状，无复发迹象。
食管GISTs占所有GISTs的比例不到1%，在影像学和组织学上可与平滑肌瘤极为相似。这种重叠常导致误诊。影像学检查方法和内镜技术可能不足以区分这些病变。明确诊断依赖于免疫组织化学标志物，特别是CD117和CD34。手术切除仍然是主要的治疗方法，根据风险分层建议进行辅助治疗。
本病例强调了在食管黏膜下肿瘤的鉴别诊断中考虑GIST的重要性。全面的组织病理学和免疫组织化学分析对于准确诊断和适当的治疗规划至关重要，特别是考虑到对长期预后和复发风险的影响。
