Background/Objectives:SMARCA4-deficient or SMARCA4-mutated cancers are rare but highly aggressive tumors with poor differentiation, resistance to conventional treatments, and limited clinical guidance. While thoracic SMARCA4-deficient undifferentiated tumors are relatively well described, the full spectrum of SMARCA4-altered cancers across different organs and their therapeutic responses remains poorly understood. This study aimed to systematically review published case reports and case series to clarify the clinical characteristics, molecular features, treatment patterns, and survival outcomes of SMARCA4-altered malignancies.Methods:We conducted a systematic review of case reports and case series published between 2015 and 2025 using PubMed, Embase, and Web of Science. Eligible studies included adult patients with immunohistochemically or genetically confirmed SMARCA4-deficient or SMARCA4-mutated tumors. Key clinical, pathological, molecular, therapeutic, and outcome-related data were extracted. Descriptive statistics were used, and exploratory subgroup analyses were performed based on tumor type and treatment modality. The review protocol was registered in PROSPERO (CRD420251088805).Results:A total of 109 studies reporting 160 individual patients were included. Most tumors arose in the thorax (40.0%), followed by gastrointestinal (17.5%) and gynecologic sites (15.6%). The median age was 58 years, with a male predominance (70.0%) and frequent smoking history (44.4%). Platinum-based chemotherapy was administered in 62.5% of cases, and immune checkpoint inhibitors (ICIs) were used in 25.6%. Among ICI-treated patients, partial responses or stable disease were observed in 80.5%. The median progression-free survival (PFS) was 4.0 months, and the median overall survival (OS) was 5.0 months.Conclusions:SMARCA4-altered cancers are clinically and molecularly diverse but uniformly aggressive, with limited therapeutic benefit from conventional chemotherapy. Immune checkpoint inhibitors may offer improved outcomes in select patients, particularly those with thoracic tumors. Early molecular profiling, rare tumor registries, and biomarker-driven trials are crucial for guiding future treatment strategies.
**背景/目的：** SMARCA4缺失或SMARCA4突变型癌症是一类罕见但高度侵袭性的肿瘤，其特点包括低分化、对常规治疗耐药且临床诊疗指南有限。尽管胸部SMARCA4缺失型未分化肿瘤已有较多描述，但SMARCA4变异癌症在不同器官中的全谱特征及其治疗反应仍不明确。本研究旨在系统回顾已发表的病例报告和病例系列，以阐明SMARCA4变异恶性肿瘤的临床特征、分子特点、治疗模式及生存结局。 **方法：** 我们通过PubMed、Embase和Web of Science数据库，对2015年至2025年间发表的病例报告和病例系列进行了系统综述。纳入标准为经免疫组化或基因检测确诊的成人SMARCA4缺失或SMARCA4突变肿瘤患者。提取关键临床、病理、分子、治疗及结局相关数据，采用描述性统计分析，并根据肿瘤类型和治疗方式进行探索性亚组分析。本综述方案已在PROSPERO注册（编号CRD420251088805）。 **结果：** 共纳入109项研究，涉及160例患者。肿瘤最常见于胸部（40.0%），其次为胃肠道（17.5%）和妇科部位（15.6%）。中位年龄58岁，男性居多（70.0%），吸烟史常见（44.4%）。62.5%的病例接受了铂类化疗，25.6%使用了免疫检查点抑制剂（ICIs）。在ICI治疗患者中，80.5%达到部分缓解或疾病稳定。中位无进展生存期（PFS）为4.0个月，中位总生存期（OS）为5.0个月。 **结论：** SMARCA4变异癌症在临床和分子层面具有异质性，但均表现为高度侵袭性，常规化疗获益有限。免疫检查点抑制剂可能为部分患者（尤其是胸部肿瘤患者）带来更好的结局。早期分子谱分析、罕见肿瘤登记以及生物标志物驱动的临床试验对指导未来治疗策略至关重要。
肿瘤(癌症)患者之家