PDF(Pubmed)
Abstract：
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.
摘要：
胸部SMARCA4缺陷型未分化肿瘤（SMARCA4-UT）是一种极为罕见且预后较差的恶性肿瘤，最近被认为是肺肿瘤的一种亚型。我们介绍了一名50岁男性的SMARCA4-UT病例，呼吸衰竭逐渐恶化。该肿瘤首次报道涉及肺动脉，90%的肿瘤细胞表达程序性细胞死亡配体1(PD-L1)。高肿瘤突变负担（TMB，23.93/Mb），并检测到SMARCA4中的突变。这是第一例接受Tislelizumab单药治疗的病例，临床状况得到了显着改善，没有不良事件。由于我们的案子，我们强调承认SMARCA4-UT作为一个个体实体的重要性，以及免疫检查点抑制剂治疗的疗效，特别是在TMB和PD-L1表达水平高的患者中。
