PDF(Pubmed)
Abstract：
SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is a rare malignant tumor characterized by inactivation of the SMARCA4 gene and the presence of undifferentiated or rhabdoid morphology in the tissue. This tumor is highly invasive, typically diagnosed at advanced stages III or IV, and commonly involves thoracic structures, such as the mediastinum and chest wall. Reported cases are limited and treatment guidelines have not yet been established. Here, we present a rare case of surgically treated non-metastatic SMARCA4-UT. The patient presented with blood-tinged sputum, dyspnea, and a history of heavy smoking, and underwent surgery after preoperative evaluation ruled out contraindications. The tumor was successfully removed along with the relevant lymph nodes; analysis determined it to be stage IIB T3N0M0. No recurrence was detected at two months post-surgery. However, four months after surgery, the tumor recurred and invaded the adjacent ribs. The diagnosis, differential diagnosis, and treatment of SMARCA4-deficient undifferentiated lung tumors is considered. The combination of chemotherapy and immunotherapy has shown efficacy, and other treatments such as anti-angiogenic drugs, histone deacetylase inhibitors (HDACi), enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) inhibitors, and oxidative phosphorylation (OXPHOS) inhibitors may also be beneficial in treating SMARCA4-UT.
摘要：
SMARCA4缺陷的未分化胸部肿瘤（SMARCA4-UT）是一种罕见的恶性肿瘤，其特征是SMARCA4基因失活，组织中存在未分化或横纹肌样形态。这个肿瘤是高度侵袭性的,通常在III或IV期晚期诊断，通常涉及胸部结构，如纵隔和胸壁。报告的病例有限，治疗指南尚未建立。这里,我们介绍了一例罕见的手术治疗的非转移性SMARCA4-UT。病人出现了带血的痰，呼吸困难,有大量吸烟史,并在术前评估后进行手术排除禁忌症。肿瘤与相关淋巴结一起成功切除；分析确定为IIBT3N0M0期。术后2个月未发现复发。然而,手术四个月后,肿瘤复发并侵犯相邻的肋骨。诊断,鉴别诊断,并考虑治疗缺乏SMARCA4的未分化肺肿瘤。化疗和免疫治疗的结合已显示出疗效，和其他治疗方法，如抗血管生成药物，组蛋白去乙酰化酶抑制剂（HDACi），zeste2多梳抑制复合物2亚基（EZH2）抑制剂的增强子，和氧化磷酸化（OXPHOS）抑制剂也可能有益于治疗SMARCA4-UT。
