Lombardi Mariano, D'Ercole Marianna, Midolo De Luca Valeria, Chiari Matteo, Spaggiari Lorenzo, Bertolaccini Luca
Department of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Department of Thoracic Surgery, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
Heliyon. 2024 Dec 12;11(1):e41128. doi: 10.1016/j.heliyon.2024.e41128. eCollection 2025 Jan 15.
This case report explores the therapeutic impact of SMARCA4 loss in a 63-year-old female patient with a history of smoking, hypertension, hypercholesterolemia, and prior surgeries for breast and pancreatic carcinomas, who presented with a new pulmonary nodule. On February 23, 2024, a CT scan identified a solid pulmonary nodule in the right lower lobe. A PET scan confirmed the nodule's metabolic activity. By May 8, 2024, follow-up imaging revealed disease progression and central cavitation in the nodule. Following admission on June 14, 2024, the patient underwent a multidisciplinary evaluation, and a lobectomy of the right lower lobe was performed. Pre-operative assessments indicated good general health and no respiratory distress. Post-surgical histology demonstrated a SMARCA4-deficient non-small cell lung cancer with loss of Brahma-related gene 1. Immunohistochemical analyses showed positive expressions of Cytokeratin-7, focal cytoplasmic positivity for Hepar-1 and loss of BRG-1. The surgery successfully removed the neoplasm, and the patient remained alive and disease-free post-operation. The follow-up plan includes tri-annual visits with contrast-enhanced chest and abdomen CT scans to monitor for recurrence. The case underscores the significance of identifying SMARCA4 deficiencies in NSCLC and advocating for tailored therapeutic strategies. Enhanced awareness and understanding of SMARCA4-deficient NSCLC can guide future treatment protocols and improve patient outcomes.
本病例报告探讨了SMARCA4缺失对一名63岁女性患者的治疗影响。该患者有吸烟、高血压、高胆固醇血症病史，既往曾接受过乳腺癌和胰腺癌手术，此次因新发肺结节就诊。2024年2月23日，CT扫描发现右下叶有一个实性肺结节。PET扫描证实了该结节的代谢活性。到2024年5月8日，随访影像显示病情进展，结节出现中央空洞。2024年6月14日入院后，患者接受了多学科评估，并进行了右下叶肺叶切除术。术前评估表明患者总体健康状况良好，无呼吸窘迫。术后组织学检查显示为SMARCA4缺陷型非小细胞肺癌，伴有布拉马相关基因1缺失。免疫组织化学分析显示细胞角蛋白-7呈阳性表达，Hepar-1呈局灶性细胞质阳性，BRG-1缺失。手术成功切除了肿瘤，患者术后存活且无疾病复发。随访计划包括每三年进行一次胸部和腹部增强CT扫描以监测复发情况。该病例强调了在非小细胞肺癌中识别SMARCA4缺陷并倡导制定个性化治疗策略的重要性。提高对SMARCA4缺陷型非小细胞肺癌的认识和理解可以指导未来的治疗方案并改善患者预后。
