Wei Xiaoling, Xing Xiangju, Yao Wei, Wang Changzheng, Xiao Yajie, Du Xianzhi
Department of Respiratory Medicine, The Third Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Department of Translational Medicine, Shenzhen Yucebio Technology Co., Ltd., Shenzhen, China.
Front Immunol. 2025 Jan 9;15:1473578. doi: 10.3389/fimmu.2024.1473578. eCollection 2024.
Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) exhibit a notably aggressive phenotype, which is associated with poor patient survival outcomes. These tumors are generally resistant to conventional cytotoxic chemotherapy, thereby limiting the availability of effective treatment options.
We describe a 69-year-old AIDS patient who initially presented with a fused, enlarged lymph node on the right clavicle and mild, unexplained pain under the right axilla that worsened with severe coughing episodes. An initial chest CT scan revealed multiple nodular and mass shadows in the mediastinum and multiple nodules in both lungs, as well as a small amount of pericardial effusion. Additionally, serum biomarkers of lung cancer were abnormal as follows: carcinoembryonic antigen (CEA) at 13.74 ng/mL, cytokeratin 19 fragment (CYFRA21-1) at 6.82 ng/mL, neuron-specific enolase (NSE) at 25.49 ng/mL, and progastrin-releasing peptide precursor (ProGRP) at 89.35 pg/mL. Subsequent pathology confirmed SMARCA4-deficient undifferentiated tumors. Considering that the weak immune status and intermediate PD-L1 level, the patient was treated with a first-line combination therapy of immunotherapy and anti-angiogenic drug instead of chemo-immunotherapy. The patient responded well to immunotherapy combining anti-angiogenic drugs and achieved an overall survival for more than 22 months.
Our study presented a rare case of thoracic SMARCA4-deficient undifferentiated tumors and AIDS, suggesting that first-line immunotherapy plus anti-angiogenic drugs as a potential therapeutic option for SMARCA4-UT patients under specific conditions.
胸段SMARCA4缺陷型未分化肿瘤（SMARCA4-UT）表现出显著的侵袭性表型，这与患者不良的生存结局相关。这些肿瘤通常对传统的细胞毒性化疗耐药，从而限制了有效治疗方案的选择。
我们描述了一名69岁的艾滋病患者，最初表现为右锁骨上融合、肿大的淋巴结以及右腋窝下轻微、不明原因的疼痛，严重咳嗽发作时疼痛加剧。最初的胸部CT扫描显示纵隔内有多个结节状和肿块阴影，双肺有多个结节，以及少量心包积液。此外，肺癌的血清生物标志物异常如下：癌胚抗原（CEA）为13.74 ng/mL，细胞角蛋白19片段（CYFRA21-1）为6.82 ng/mL，神经元特异性烯醇化酶（NSE）为25.49 ng/mL，胃泌素释放肽前体（ProGRP）为89.35 pg/mL。随后的病理证实为SMARCA4缺陷型未分化肿瘤。考虑到患者免疫状态较弱且程序性死亡受体配体1（PD-L1）水平中等，给予患者免疫治疗联合抗血管生成药物的一线联合治疗，而非化疗免疫治疗。患者对免疫治疗联合抗血管生成药物反应良好，总生存期超过22个月。
我们的研究报告了一例罕见的胸段SMARCA4缺陷型未分化肿瘤合并艾滋病的病例，提示在特定条件下，一线免疫治疗联合抗血管生成药物可能是SMARCA4-UT患者的一种治疗选择。
