Background/Objectives: The present investigation quantifies the striking predisposition for small intestinal GISTs in NF-1 patients, examining both multifocal and solitary tumor patterns while establishing critical epidemiological comparisons with the general population. By elucidating these distinct clinical and biological profiles, the study aims to transform the understanding of NF1-associated tumorigenesis and optimize patient surveillance strategies.Methods: This systematic review and meta-analysis was conducted in strict accordance with PRISMA guidelines, the gold-standard framework for minimizing bias and maximizing reproducibility in evidence synthesis. Prospectively registered in PROSPERO, the study employed a PICO framework to evaluate interventions, outcomes, and comparisons.Results: This systematic review and meta-analysis reveals a profound oncogenic propensity for small intestinal GISTs in NF-1 patients, demonstrating markedly increased prevalence relative to population baselines. The tumors display characteristic presentation and histological profiles, with a distribution of 54% multifocal lesions, 41% solitary SI-GIST, and 5% solitary duodenal GIST cases, demonstrating the diverse clinical manifestations of NF-1-associated tumors. These compelling findings not only redefine the epidemiological landscape of NF1-associated malignancies but also underscore extraordinary disease susceptibility, far surpassing previous estimates and sporadic occurrence rates in the general population.Conclusions: The distinct clinical patterns and high frequency of these tumors among NF-1 patients provide important insights into GIST development while underscoring the need for heightened clinical suspicion, particularly in patients manifesting gastrointestinal hemorrhage. These findings highlight the unique challenges in managing these cases—including diagnostic limitations and therapeutic constraints—underscoring the imperative for multidisciplinary therapeutic frameworks for detection, monitoring and treatment in this high-risk population.
背景/目的：本研究量化了NF-1患者中小肠GIST的显著易感性，同时分析了多灶性与孤立性肿瘤模式，并与普通人群建立了关键的流行病学比较。通过阐明这些独特的临床与生物学特征，本研究旨在转变对NF1相关肿瘤发生的理解，并优化患者监测策略。 方法：本系统综述与荟萃分析严格遵循PRISMA指南进行，该框架是证据合成中最大限度减少偏倚并确保可重复性的金标准。研究已在PROSPERO前瞻性注册，采用PICO框架评估干预措施、结局指标及比较对象。 结果：本系统综述与荟萃分析揭示了NF-1患者中小肠GIST的显著致癌倾向，其患病率相较于人群基线水平显著升高。肿瘤呈现特征性临床表现与组织学特征，其中54%为多灶性病变，41%为孤立性小肠GIST，5%为孤立性十二指肠GIST病例，体现了NF-1相关肿瘤多样化的临床表现。这些重要发现不仅重新定义了NF1相关恶性肿瘤的流行病学格局，更凸显了其远超既往预估及普通人群散发率的特殊疾病易感性。 结论：NF-1患者中这些肿瘤独特的临床模式与高发频率为GIST的发展机制提供了重要见解，同时强调需提高临床警惕性，尤其对出现胃肠道出血症状的患者。研究结果揭示了此类病例管理中的特殊挑战——包括诊断局限性与治疗制约因素——凸显了在这一高危人群中建立多学科诊疗框架以实现早期检测、监测与治疗的迫切必要性。
肿瘤(癌症)患者之家