Improta Giuseppina, Vita Giulia, Tartarone Alfredo, Calice Giovanni, Omer Ludmila Carmen, Zupa Angela
Anatomical Pathology Department, IRCCS CROB Referral Cancer Center of Basilicata, Rionero in Vulture, Italy.
Division of Medical Oncology, Department of Onco-Hematology, IRCCS CROB Referral Cancer Center of Basilicata, Rionero in Vulture, Italy.
Anticancer Res. 2025 Jan;45(1):335-340. doi: 10.21873/anticanres.17421.
BACKGROUND/AIM: Epidermal growth factor receptor (EGFR) exon 19 insertions are very rare mutations and their response to tyrosine kinase inhibitors (TKIs) is uncertain. We report our experience concerning two patients, along with a literature review.
A total of 1,046 non-small-cell lung cancer tumor tissue samples were screened for EGFR mutations, using direct sequencing or next-generation sequencing. Two patients presented the same insertion of 18 nucleotides in EGFR exon 19 and were treated with afatinib.
Both patients responded to afatinib, showing a stable disease (SD) and a progression-free survival (PFS) of 6 and 10 months along with an overall survival (OS) of 17 and 19 months, respectively. A review of the literature data concerning clinical responsiveness to different generations of TKIs in patients with EGFR exon 19 insertions, including data of our two patients (n=28), showed a response rate of 64% and disease control rate of 92%. The calculated median PFS for the 28 cases, independently of the TKIs administered, was 9 months; median OS (n=15) was 13 months. Median PFS for patients receiving gefitinib and erlotinib was 9 months and 12.5 months, respectively, consistent with the median PFS observed in patients with "classical" EGFR mutations, treated with these agents.
Patients with EGFR insertions in exon 19 have demonstrated sensitivity to treatment with EGFR TKIs, suggesting that patients carrying these mutations should be treated with these inhibitors.
背景/目的：表皮生长因子受体（EGFR）外显子19插入是非常罕见的突变，其对酪氨酸激酶抑制剂（TKIs）的反应尚不确定。我们报告了两例患者的情况，并进行了文献综述。
使用直接测序或下一代测序对总共1046份非小细胞肺癌肿瘤组织样本进行EGFR突变筛查。两名患者在EGFR外显子19中出现相同的18个核苷酸插入，并接受了阿法替尼治疗。
两名患者均对阿法替尼有反应，疾病稳定（SD），无进展生存期（PFS）分别为6个月和10个月，总生存期（OS）分别为17个月和19个月。对有关EGFR外显子19插入患者对不同代TKIs临床反应的文献数据进行综述，包括我们两名患者的数据（n = 28），显示缓解率为64%，疾病控制率为92%。28例患者的计算中位PFS，与所给予的TKIs无关，为9个月；中位OS（n = 15）为13个月。接受吉非替尼和厄洛替尼治疗的患者中位PFS分别为9个月和12.5个月，与接受这些药物治疗的“经典”EGFR突变患者观察到的中位PFS一致。
EGFR外显子19插入的患者已证明对EGFR TKIs治疗敏感，表明携带这些突变的患者应使用这些抑制剂进行治疗。
