METHODS: The clinical data of all LUAD patients with only the EGFR-T790M primary mutation were collected. Immunohistochemical staining was performed on cell cycle-related proteins, targeted therapy indicators, and prognosis-related proteins in the specimens obtained from puncture biopsies or surgeries.
OBJECTIVE: The aim of this study is to analyze the clinicopathological features and possible physiological mechanisms of only the EGFR-T790M primary mutation in LUAD, and to offer recommendations for clinical management.
RESULTS: Two patients who have only the T790M de novo mutation were both female (2/12,928, 0.02%). β-catenin and Cyclin D1 were both highly expressed. In case 1, IHC results showed a positive Ki67 and mutant P53 and there was a significant increase in serum CYFRA 21-1. Third-generation of EGFR TKIs resulted in a partial response (PR) time of less than 8 months in case 1. In case 2, the patient underwent surgical resection and adjuvant chemotherapy, resulting in a progression-free survival (PFS) time of 25 months.
CONCLUSIONS: The results suggest that abnormal activation of the Wnt signaling pathway may be specifically associated with the EGFR-T790M primary mutation in LUAD. Furthermore, it has been observed that patients with significant Ki67, mutant P53, and CYFRA 21-1 expression tend to have a poor prognosis.
方法:收集所有仅有EGFR-T790M原发突变的LUAD患者的临床资料。对细胞周期相关蛋白进行免疫组织化学染色,靶向治疗指标,和从穿刺活检或手术获得的标本中的预后相关蛋白。
目的:本研究的目的是分析LUAD中仅EGFR-T790M原发性突变的临床病理特征和可能的生理机制,并为临床管理提供建议。
结果:两名仅具有T790M从头突变的患者均为女性(2/12,928,0.02%)。β-catenin和CyclinD1均高表达。在病例1中,IHC结果显示阳性Ki67和突变型P53,并且血清CYFRA21-1显著增加。在病例1中,第三代EGFRTKI导致部分反应(PR)时间少于8个月。在病例2中,患者接受了手术切除和辅助化疗,导致25个月的无进展生存期(PFS)。
结论:结果表明,Wnt信号通路的异常激活可能与LUAD中的EGFR-T790M原发性突变特异性相关。此外,已经观察到,具有显著Ki67,突变型P53和CYFRA21-1表达的患者往往预后不良.