Cortés Valenzuela Daniela Cristina, Vega Medina Pablo Andrés, Palma García Francisco José, Castillo-Fernandez Omar
School of Medicine, University of Panama, Panama City, Panama.
Department of Medical Oncology, National Oncologic Institute, Panama City, Panama.
AME Case Rep. 2024 Jun 14;8:76. doi: 10.21037/acr-23-206. eCollection 2024.
Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by mutations in the tumor protein p53 (). It causes a predisposition for the development of multiple malignancies, primarily including breast cancers, sarcomas, and central nervous system tumors. There are a few cases reported in the literature of patients with LFS presenting with an epidermal growth factor receptor (EGFR) mutated lung cancer. Still, it has been suggested that there may be an association between the pathogenic variant and lung cancer with EGFR mutation in somatic cells.
A 47-year-old non-smoker woman with LFS with a history of multiple tumors, including bilateral breast cancer, pecoma, and sarcoma. In one of her computed tomography, a lesion in the lingula of the lung was detected. It was biopsied, which diagnosed lung adenocarcinoma, and genetic studies detected an EGFR exon 19 deletion. She was treated with a left inferior lobectomy, followed by pemetrexed and cisplatin.
The association between and lung cancer with EGFR mutation has been suggested in case reports. Studies in lung cancer cell lines have shown a link between TP53 mutation and EGFR overexpression. Nonetheless, as more cases are reported, further research is needed to comprehend the interrelation between these two pathologies and the risk posed by LFS to the emergence of EGFR-mutated lung cancer.
李-佛美尼综合征（LFS）是一种由肿瘤蛋白p53突变引起的罕见遗传性疾病。它会导致多种恶性肿瘤的易感性增加，主要包括乳腺癌、肉瘤和中枢神经系统肿瘤。文献中报道了少数LFS患者出现表皮生长因子受体（EGFR）突变的肺癌病例。不过，有人提出体细胞中的致病变体与EGFR突变的肺癌之间可能存在关联。
一名47岁不吸烟的LFS女性患者，有多种肿瘤病史，包括双侧乳腺癌、胚性癌和肉瘤。在她的一次计算机断层扫描中，发现肺部舌叶有一个病灶。对其进行活检，诊断为肺腺癌，基因研究检测到EGFR外显子19缺失。她接受了左下肺叶切除术，随后接受培美曲塞和顺铂治疗。
病例报告中已提出[此处原文有缺失内容]与EGFR突变的肺癌之间的关联。对肺癌细胞系的研究表明TP53突变与EGFR过表达之间存在联系。尽管如此，随着更多病例的报道，需要进一步研究以了解这两种病理之间的相互关系以及LFS对EGFR突变肺癌发生所构成的风险。
