Department of Surgery, Pritzker School of Medicine, University of Chicago, IL 60637, USA.
World J Gastroenterol. 2012 Dec 14;18(46):6720-8. doi: 10.3748/wjg.v18.i46.6720.
Gastrointestinal stromal tumors (GIST) are rare mesenchymal smooth muscle sarcomas that can arise anywhere within the gastrointestinal tract. Sporadic mutations within the tyrosine kinase receptors of the interstitial cells of Cajal have been identified as the key molecular step in GIST carcinogenesis. Although many patients are asymptomatic, the most common associated symptoms include: abdominal pain, dyspepsia, gastric outlet obstruction, and anorexia. Rarely, GIST can perforate causing life-threatening hemoperitoneum. Most are ultimately diagnosed on cross-sectional imaging studies (i.e., computed tomography and/or magnetic resonance imaging in combination with upper endoscopy. Endoscopic ultrasonographic localization of these tumors within the smooth muscle layer and acquisition of neoplastic spindle cells harboring mutations in the c-KIT gene is pathognomonic. Curative treatment requires a complete gross resection of the tumor. Both open and minimally invasive operations have been shown to reduce recurrence rates and improve long-term survival. While there is considerable debate over whether GIST can be benign neoplasms, we believe that all GIST have malignant potential, but vary in their propensity to recur after resection and metastasize to distant organ sites. Prognostic factors include location, size (i.e., > 5 cm), grade (> 5-10 mitoses per 50 high power fields and specific mutational events that are still being defined. Adjuvant therapy with tyrosine kinase inhibitors, such as imatinib mesylate, has been shown to reduce the risk of recurrence after one year of therapy. Treatment of locally-advanced or borderline resectable gastric GIST with neoadjuvant imatinib has been shown to induce regression in a minority of patients and stabilization in the majority of cases. This treatment strategy potentially reduces the need for more extensive surgical resections and increases the number of patients eligible for curative therapy. The modern surgical treatment of gastric GIST combines the novel use of targeted therapy and aggressive minimally invasive surgical procedures to provide effective treatment for this lethal, but rare gastrointestinal malignancy.
胃肠道间质瘤（GIST）是一种罕见的间叶性平滑肌肉肉瘤，可发生于胃肠道的任何部位。现已确定，Cajal 间质细胞的酪氨酸激酶受体的散发性突变是 GIST 癌变的关键分子步骤。尽管许多患者无症状，但最常见的相关症状包括：腹痛、消化不良、胃出口梗阻和厌食。极少数情况下，GIST 可穿孔导致危及生命的血性腹膜腔。大多数患者最终通过横断面成像研究（即计算机断层扫描和/或磁共振成像结合上内窥镜检查）诊断。这些肿瘤在平滑肌层中的内镜超声定位和获取携带 c-KIT 基因突变的肿瘤梭形细胞是其特征性表现。治愈性治疗需要完全切除肿瘤。已证实开放和微创操作均可降低复发率并改善长期生存。虽然关于 GIST 是否为良性肿瘤存在很大争议，但我们认为所有 GIST 都具有恶性潜能，但在切除后复发和转移到远处器官部位的倾向存在差异。预后因素包括位置、大小（即 > 5 cm）、分级（即 > 5-10 个有丝分裂/50 个高倍视野和特定的突变事件，这些仍在定义中）。辅助治疗用酪氨酸激酶抑制剂，如甲磺酸伊马替尼，已被证明可降低治疗 1 年后复发的风险。新辅助应用伊马替尼治疗局部进展或边界可切除的胃 GIST 已被证明可使少数患者肿瘤消退，大多数患者肿瘤稳定。这种治疗策略可能减少更广泛的手术切除需求，并增加适合治愈性治疗的患者数量。胃 GIST 的现代手术治疗结合了靶向治疗和积极的微创外科手术的新应用，为这种致命但罕见的胃肠道恶性肿瘤提供了有效的治疗方法。
