Department of Hematology and Oncology, Corewell Health - William Beaumont University Hospital, Royal Oak, Michigan, USA.
Thorac Cancer. 2024 Apr;15(10):847-851. doi: 10.1111/1759-7714.15230. Epub 2024 Feb 23.
SMARCA4-deficient undifferentiated thoracic tumors are a rare phenomenon. A 40-year-old male was newly diagnosed with SMARCA4-deficient undifferentiated non-small cell lung cancer. He had a history of heavy smoking and job-related exposure to metal dust and melted nickel. CT imaging showed numerous right-sided pleural masses and soft tissue plaques, but no metastases. CT-guided biopsy of a pleural mass confirmed the diagnosis. He was prescribed six cycles of carboplatin paclitaxel, and follow-up imaging showed largely stable disease. Treatment was changed to nivolumab due to shortness of breath, and he received one cycle of nivolumab without considerable side effects. Unfortunately, during the second cycle of his nivolumab, the patient presented with new weakness. Imaging showed spinal cord metastasis and he underwent a laminectomy; he was subsequently followed up as an outpatient. The objective of this publication was to explore SMARCA4-deficient undifferentiated thoracic tumors, other related SMARCA4-deficient tumors, and their overall pattern of presentation. The genetic aberrations of this case are compared to recent publications that also discuss genetic aberrations commonly occurring with this disease process, with an ultimate goal of hastening detection and adding to the library of treatment results.
SMARCA4 缺陷型未分化胸内肿瘤较为罕见。一名 40 岁男性新诊断为 SMARCA4 缺陷型未分化非小细胞肺癌。他有重度吸烟史和与金属粉尘及熔融镍相关的职业暴露史。CT 影像学显示大量右侧胸膜肿块和软组织斑块,但无转移。经 CT 引导下胸膜肿块活检确诊。他接受了六个周期的卡铂紫杉醇治疗,随访影像学显示疾病基本稳定。因出现呼吸困难而改用纳武利尤单抗治疗,他接受了一个周期的纳武利尤单抗治疗,未出现明显副作用。不幸的是,在纳武利尤单抗第二周期期间,患者出现新的无力症状。影像学显示脊髓转移,行椎板切除术;随后作为门诊患者进行随访。本研究旨在探讨 SMARCA4 缺陷型未分化胸内肿瘤、其他相关 SMARCA4 缺陷型肿瘤以及它们的总体表现模式。该病例的基因异常与最近的出版物进行了比较,这些出版物也讨论了该疾病过程中常见的基因异常,最终目的是加速检测并增加治疗结果的知识库。