Niranjan Gauri, Prasad Pallavi, Verma Archana, Kumar Ashok
Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Department of Surgical Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Discoveries (Craiova). 2025 Mar 31;13(1):e202. doi: 10.15190/d.2025.1. eCollection 2025 Jan-Mar.
Gastrointestinal stromal tumours (GIST) are rare mesenchymal tumours which represent 1% to 3% of all gastrointestinal neoplasms. Rectal location of GIST is extremely rare accounting for 5% of GIST and only 0.1% of rectal tumours. They usually metastasise to the liver (65%). We hereby report a case of rectal stromal tumour with hepatic metastasis. A 55-year-old female presented with pelvic pain, associated with rectal bleeding. A thoracoabdominal computed tomography showed a large heterogeneous enhancing mass, arising from the rectum, anal canal and distal sigmoid colon measuring 12.3x8.7x7.6cm. Based on histopathological examination followed by immunohistochemistry, she was diagnosed with locally advanced rectal GIST. The tumour reduced in size after neoadjuvant-targeted treatment with imatinib. A local resection of the rectal GIST was successfully performed, and a diversion colostomy was done, later colostomy bag was attached. Following the operation, oral imatinib treatment was continued. On subsequent follow-up, her triple phase CECT whole abdomen showed multiple small well-defined peripherally enhancing hypodense liver lesions, the largest measuring 29x18mm suggestive of metastases. Ultrasound-guided fine needle aspiration from a liver lesion was reported as metastatic GIST. The patient underwent surgery, sunitinib was started and was discharged in stable condition. Thus, cytologic examination provides rapid interpretation, is a less invasive technique than open biopsy, and provides a cost-effective modality for diagnosing and managing inaccessible lesions.
胃肠道间质瘤（GIST）是罕见的间叶组织肿瘤，占所有胃肠道肿瘤的1%至3%。GIST发生于直肠极为罕见，占GIST的5%，仅占直肠肿瘤的0.1%。它们通常转移至肝脏（65%）。我们在此报告一例伴有肝转移的直肠间质瘤病例。一名55岁女性因盆腔疼痛伴直肠出血就诊。胸腹计算机断层扫描显示一个巨大的不均匀强化肿块，起源于直肠、肛管和乙状结肠远端，大小为12.3×8.7×7.6cm。经组织病理学检查及免疫组织化学检查，她被诊断为局部进展期直肠GIST。新辅助靶向治疗使用伊马替尼后肿瘤体积缩小。成功进行了直肠GIST局部切除术，并做了转流性结肠造口术，随后装上结肠造口袋。术后继续口服伊马替尼治疗。在随后的随访中，她的全腹三期CT增强扫描显示肝脏有多个边界清晰的周边强化低密度小病灶，最大者直径为29×18mm，提示转移。肝脏病灶超声引导下细针穿刺活检报告为转移性GIST。患者接受了手术，开始使用舒尼替尼治疗，出院时病情稳定。因此，细胞学检查能快速给出诊断结果，是一种比开放性活检侵入性更小的技术，为诊断和处理难以触及的病灶提供了一种经济有效的方法。
