Background/Objectives: Extra-gastrointestinal stromal tumors (EGISTs) are rare mesenchymal tumors arising outside the gastrointestinal tract, making up <5% of all GISTs. Rectovaginal EGISTs are particularly uncommon, with limited available data. This study systematically reviews the clinicopathological features, management, and outcomes of rectovaginal EGISTs.Methods: A systematic review of the English-language literature was conducted for studies on rectovaginal EGISTs (search date: 15 January 2025).Results: Thirty-one studies, including 40 female patients (mean age: 55.2 ± 15.4 years), met the inclusion criteria. Presenting symptoms included vaginal bleeding (24.3%), palpable mass (13.5%), constipation (10.8%), and abdominal pain (8.1%); however, the majority of patients (45.9%) were asymptomatic. Surgical excision was undertaken in 95% of patients, more often via local resection (61.1%). A high-grade mitotic index (>5/50 HPF) was noted in 63.2%. CD117, DOG-1, and vimentin was expressed in all cases, while CD34 was positive in 97.1%. Adjuvant therapy with tyrosine kinase inhibitors (TKIs) was administered in 57.5%, and neoadjuvant therapy was rare (8.6%). Recurrence occurred in 39.4% over a median follow-up of 40 ± 61.5 months, with a median disease-free survival (DFS) of 48 months. One death occurred 13 months postoperatively.Conclusions: Rectovaginal EGISTs are exceedingly rare and often asymptomatic, complicating preoperative diagnosis. Surgical resection remains the cornerstone of treatment, complemented by stage-specific neoadjuvant or adjuvant TKI therapy. The challenging location predisposes to recurrence, underscoring the need for further studies to optimize management and improve outcomes.
**背景/目的：** 胃肠道外间质瘤（EGISTs）是发生于胃肠道外的罕见间叶源性肿瘤，占所有GISTs的<5%。直肠阴道EGISTs尤为少见，现有数据有限。本研究系统综述了直肠阴道EGISTs的临床病理特征、治疗及预后。 **方法：** 对关于直肠阴道EGISTs的英文文献进行了系统综述（检索日期：2025年1月15日）。 **结果：** 共31项研究符合纳入标准，涉及40例女性患者（平均年龄：55.2 ± 15.4岁）。主要症状包括阴道出血（24.3%）、可触及肿块（13.5%）、便秘（10.8%）和腹痛（8.1%）；然而，大多数患者（45.9%）无症状。95%的患者接受了手术切除，其中局部切除更常见（61.1%）。63.2%的病例核分裂象指数高（>5/50 HPF）。所有病例均表达CD117、DOG-1和波形蛋白，而CD34阳性率为97.1%。57.5%的患者接受了酪氨酸激酶抑制剂（TKIs）辅助治疗，新辅助治疗少见（8.6%）。中位随访40 ± 61.5个月期间，复发率为39.4%，中位无病生存期（DFS）为48个月。1例患者于术后13个月死亡。 **结论：** 直肠阴道EGISTs极为罕见且常无症状，增加了术前诊断的难度。手术切除仍是治疗的基石，辅以分期特异性的新辅助或辅助TKI治疗。其解剖位置特殊，易导致复发，这凸显了需要进一步研究以优化治疗策略并改善预后。
肿瘤(癌症)患者之家