Shi Liyong, Lin Lianshun, Ding Yin, Zeng Yiming, Chen Xiaoyang
Department of Respiratory and Critical Care Medicine, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Front Oncol. 2022 Nov 1;12:1020875. doi: 10.3389/fonc.2022.1020875. eCollection 2022.
Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is an extremely rare and poor-prognosis malignancy, which has recently been noted as a subtype of lung tumors. We presented a case of SMARCA4-UT in a 50-year-old man with progressively worsening respiratory failure. The tumor was the first reported to involve pulmonary artery, and 90% of tumor cells expressed programmed cell death ligand 1 (PD-L1). High tumor mutational burden (TMB, 23.93/Mb) and mutations in SMARCA4 were detected. It is the first reported case to receive Tislelizumab monotherapy with considerable improvement in clinical condition and no adverse events. As a result of our case, we highlight the importance of recognizing SMARCA4-UT as an individual entity, as well as the efficacy of immune checkpoint inhibitor therapy, particularly in patients with high levels of TMB and PD-L1 expression.
胸段SMARCA4缺陷型未分化肿瘤（SMARCA4-UT）是一种极其罕见且预后不良的恶性肿瘤，最近被认定为肺肿瘤的一种亚型。我们报告了一例50岁男性的SMARCA4-UT病例，该患者呼吸衰竭呈进行性加重。该肿瘤首次被报道累及肺动脉，且90%的肿瘤细胞表达程序性细胞死亡配体1（PD-L1）。检测到高肿瘤突变负荷（TMB，23.93/Mb）以及SMARCA4突变。这是首例接受替雷利珠单抗单药治疗且临床状况有显著改善且无不良事件的病例。基于我们的病例，我们强调了将SMARCA4-UT识别为一个独立实体的重要性，以及免疫检查点抑制剂治疗的疗效，特别是在TMB和PD-L1表达水平较高的患者中。
