Pathak Surabhi, Singh Sunny R K, Katiyar Vatsala, Mcdunn Susan
Department of Hematology-Oncology, John H Stroger Jr. Hospital of Cook County, Chicago, USA.
Department of Internal Medicine, John H Stroger Jr. Hospital of Cook County, Chicago, USA.
Cureus. 2018 Mar 30;10(3):e2395. doi: 10.7759/cureus.2395.
Epidermal growth factor receptor (EGFR) mutation-driven lung cancer is a rare occurrence in patients with Li-Fraumeni syndrome (LFS) characterized by germline mutations in the tumor protein 53 (TP53) gene. Here we describe a case of primary EGFR mutation-driven lung adenocarcinoma in a young woman with LFS. There is only one other reported case with such presentation. We review the interactions between the TP53 gene and EGFR pathways facilitating lung carcinogenesis. We also review other cases with similar presentations described in the literature and the response to tyrosine kinase inhibitors (TKI) in this rare patient population.
表皮生长因子受体（EGFR）突变驱动的肺癌在李-弗劳梅尼综合征（LFS）患者中很少见，该综合征的特征是肿瘤蛋白53（TP53）基因的种系突变。本文报道了1例年轻的LFS女性患者发生原发性EGFR突变驱动的肺腺癌。此前仅有1例类似病例报道。我们回顾了TP53基因与EGFR通路之间促进肺癌发生的相互作用。我们还回顾了文献中描述的其他类似病例以及该罕见患者群体对酪氨酸激酶抑制剂（TKI）的反应。
