Royal Marsden NHS Foundation Trust, London, England, UK.
Royal Marsden NHS Foundation Trust, London, England, UK.
Lung Cancer. 2024 May;191:107543. doi: 10.1016/j.lungcan.2024.107543. Epub 2024 Mar 30.
Interest in hereditary lung cancer is increasing, in particular germline mutations in the Epidermal Growth Factor Receptor (EGFR) gene. We review the current literature on this topic, discuss risk of developing lung cancer, treatment and screening options and describe a family of 3 sisters with lung cancer and their unaffected mother all with a rare EGFR germline mutation (EGFR p.R776H).
We searched PubMed, Medline, Embase, the Cochrane Library, Google Scholar and scanned reference lists of articles. Search terms included "EGFR germline" and "familial lung cancer" or "EGFR familial lung cancer". We also describe our experience of managing a family with rare germline EGFR mutant lung cancer.
Although the numbers are small, the described cases in the literature show several similarities. The patients are younger and usually have no or light smoking history. 50% of the patients were treated with a tyrosine kinase inhibitor (TKIs) with OS over six months.
Although rare, germline p.R776H EGFR lung cancer mutations are over-represented in light or never smoking female patients who often also possess an additional somatic EGFR mutation. Treatment with TKIs appears suitable but further research is needed into the appropriate screening regime for unaffected carriers or light/never smokers.
遗传性肺癌的研究兴趣正在增加，特别是表皮生长因子受体（EGFR）基因的种系突变。我们回顾了这一主题的现有文献，讨论了患肺癌的风险、治疗和筛查选择，并描述了一个有 3 位姐妹和她们未受影响的母亲都患有肺癌的家族，她们都携带有罕见的 EGFR 种系突变（EGFR p.R776H）。
我们在 PubMed、Medline、Embase、Cochrane 图书馆、Google Scholar 上进行了检索，并查阅了文章的参考文献列表。检索词包括“EGFR 种系”和“家族性肺癌”或“EGFR 家族性肺癌”。我们还描述了我们管理一个罕见 EGFR 种系突变肺癌家族的经验。
尽管数量较少，但文献中描述的病例有几个相似之处。这些患者年龄较小，通常没有或有轻度吸烟史。50%的患者接受了酪氨酸激酶抑制剂（TKIs）治疗，OS 超过 6 个月。
尽管罕见，但种系 p.R776H EGFR 肺癌突变在轻度或从不吸烟的女性患者中过度表达，这些患者通常还携带另一个体细胞 EGFR 突变。TKIs 的治疗似乎是合适的，但需要进一步研究针对未受影响的携带者或轻度/从不吸烟者的适当筛查方案。
