Grabill Nathaniel, Louis Mena, Cawthon Mariah, Conway Joseph, Chambers James
Northeast Georgia Medical Center, General Surgery Department. Gainesville, GA 30501, USA.
Northeast Georgia Medical Center, Pathology Department. Gainesville, GA 30501, USA.
Radiol Case Rep. 2024 Aug 12;19(11):4824-4831. doi: 10.1016/j.radcr.2024.07.105. eCollection 2024 Nov.
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, frequently characterized by mutations in the KIT or PDGFRA genes. This case report details the complex clinical course of a 71-year-old female with a history of HIV and metastatic GIST presenting with acute abdominal symptoms indicative of perforated viscus. Initial imaging revealed a massive pneumoperitoneum and a large abdominal mass, necessitating immediate surgical intervention. The patient underwent multiple surgeries, including bowel resections and colostomy creation, to address the extensive tumor burden and complications. Postoperatively, she required intensive care management, including mechanical ventilation, vasopressor support, and hemodialysis for acute kidney injury. Pathological examination confirmed metastatic GIST with extensive mesenteric and omental involvement. Immunohistochemical staining was positive for CD117 (c-KIT) and DOG-1. Despite aggressive surgical and supportive measures, the patient's condition highlighted the significant challenges in managing advanced GIST with perforation. This case highlights the importance of a multidisciplinary approach, integrating surgical, medical, and intensive care to optimize outcomes. The prognosis of GIST varies widely, with localized tumors having favorable outcomes following resection, while metastatic cases often face a poorer prognosis despite advances in targeted therapies. This case exemplifies the critical need for personalized treatment plans and ongoing research to improve the management and prognosis of GIST patients.
胃肠道间质瘤（GISTs）是胃肠道最常见的间叶性肿瘤，常表现为KIT或PDGFRA基因突变。本病例报告详细介绍了一名71岁女性的复杂临床病程，该患者有HIV病史且患有转移性GIST，出现提示脏器穿孔的急性腹部症状。初始影像学检查显示大量气腹和一个大的腹部肿块，需要立即进行手术干预。患者接受了多次手术，包括肠切除术和造口术，以应对广泛的肿瘤负荷和并发症。术后，她需要重症监护管理，包括机械通气、血管活性药物支持以及针对急性肾损伤的血液透析。病理检查证实为转移性GIST，伴有广泛的肠系膜和网膜受累。免疫组化染色显示CD117（c-KIT）和DOG-1呈阳性。尽管采取了积极的手术和支持措施，但患者的病情凸显了处理伴有穿孔的晚期GIST的重大挑战。本病例强调了多学科方法的重要性，整合手术、医疗和重症监护以优化治疗结果。GIST的预后差异很大，局限性肿瘤切除后预后良好，而转移性病例尽管靶向治疗取得了进展，但往往预后较差。本病例例证了制定个性化治疗方案以及持续开展研究以改善GIST患者管理和预后的迫切需求。
