Doan Tu Trong, Pham Duong The, Nguyen Cuong Van, Tran Thanh Tuan, Nguyen Hai Van
Department of Abdominal Surgery 2.
Department of Radiation Oncology 2, Vietnam National Cancer Hospital, Hanoi, Vietnam.
Ann Med Surg (Lond). 2025 Jan 7;87(2):939-943. doi: 10.1097/MS9.0000000000002886. eCollection 2025 Feb.
Gastrointestinal stromal tumor (GIST) is a common malignancy of the gastrointestinal tract, but rarely occurs in the esophagus, composing approximately 0.7% of all GISTs. Surgery is a mainstay treatment for this disease. We herein report a case of a 68-year-old male patient treated by thoraco-laparoscopic esophagectomy followed by imatinib therapy for a large esophageal GIST, and also review a literature regarding this disease.
A 68-year-old male was admitted to our hospital due to dysphagia. After the initial investigations, the patient was diagnosed with esophageal GIST and underwent thoraco-laparoscopic esophagectomy. Final immunohistochemistry (IHC) was positive with CD117, CD34, DOG-1, Ki67 without the expression of SMA, S-100 that confirmed GIST. The patient was referred to adjuvant therapy with imatinib and there was no recurrence at 16 months after surgery.
Due to the rarity of esophageal GISTs, diagnosis and treatment remain challenging. Without immunohistochemistry, this disease may be misdiagnosed as esophageal leiomyoma, or with other mesenchymal tumors such as sarcoma or schwannoma due to similar clinical, endoscopic and radiographic characteristics. Surgery is the cornerstone treatment, the choice of enucleation or esophagectomy depends on the comprehensive evaluation of clinical and pathologic factors of the specific case. Neoadjuvant or adjuvant treatment with imatinib is an effective therapy for selective patients.
GISTs are rare neoplasms of the esophagus. Currently, surgical resection is the cornerstone treatment, adjuvant or neoadjuvant therapy with imatinib may be indicated for selective patients. Clinical trials are expected with longer follow-ups to develop concrete guidelines for this disease.
胃肠道间质瘤（GIST）是胃肠道常见的恶性肿瘤，但很少发生于食管，约占所有GIST的0.7%。手术是该病的主要治疗方法。我们在此报告一例68岁男性患者，接受了胸腹腔镜联合食管切除术，随后针对巨大食管GIST进行了伊马替尼治疗，并对有关该疾病的文献进行了综述。
一名68岁男性因吞咽困难入院。初步检查后，该患者被诊断为食管GIST，并接受了胸腹腔镜联合食管切除术。最终免疫组织化学（IHC）检查显示CD117、CD34、DOG-1、Ki67呈阳性，而SMA、S-100未表达，确诊为GIST。该患者接受了伊马替尼辅助治疗，术后16个月无复发。
由于食管GIST罕见，诊断和治疗仍然具有挑战性。在没有免疫组织化学检查的情况下，由于临床、内镜和影像学特征相似，该病可能被误诊为食管平滑肌瘤，或与其他间叶性肿瘤如肉瘤或神经鞘瘤混淆。手术是基础治疗，选择摘除术还是食管切除术取决于对具体病例临床和病理因素的综合评估。伊马替尼新辅助或辅助治疗对部分患者是有效的治疗方法。
GIST是食管罕见的肿瘤。目前，手术切除是基础治疗，对于部分患者可能需要伊马替尼辅助或新辅助治疗。期望开展更长随访期的临床试验以制定针对该病的具体指南。
