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保加利亚患者转移性肺腺癌的分子图谱——一项前瞻性研究

Molecular Landscape of Metastatic Lung Adenocarcinoma in Bulgarian Patients-A Prospective Study.

作者信息

Dimitrov George, Nankov Vladislav, Chilingirova Natalia, Kamburova Zornitsa, Popovska Savelina

机构信息

Department of Medical Oncology, Medical University of Sofia, University Hospital "Tsaritsa Yoanna", 1527 Sofia, Bulgaria.

Centre of Competence in Personalized Medicine, 3D and Telemedicine, Robotic Assisted and Minimally Invasive Surgery-Leonardo da Vinci, 5800 Pleven, Bulgaria.

出版信息

Int J Mol Sci. 2025 Jul 21;26(14):7017. doi: 10.3390/ijms26147017.

Abstract

Lung adenocarcinoma exhibits a heterogeneous molecular landscape shaped by key oncogenic drivers and tumor suppressor gene alterations. Mutation frequencies vary geographically, influenced by genetic ancestry and environmental factors. However, the molecular profile of lung adenocarcinoma in Bulgarian patients remains largely uncharacterized. We conducted a prospective study of 147 Bulgarian patients with metastatic lung adenocarcinoma, analyzing clinicopathologic features and somatic mutation frequencies using next-generation sequencing. Key mutations and their prevalence were assessed and compared with published data from other populations. The cohort included predominantly male patients (68.0%) with a median age of 67 years. mutations were most frequent (41.5%), followed by alterations (19.0%) and c.34G>T (p.Gly12Cys) (17.0%). Over half of the patients (51.0%) harbored two or more gene mutations. Mutation frequencies aligned closely with European cohorts, exhibiting a lower prevalence of mutations compared to East Asian populations. This study characterizes the molecular landscape of lung adenocarcinoma in Bulgaria, highlighting the predominance of and mutations. The findings emphasize the need for comprehensive molecular profiling to inform targeted therapies and support precision oncology approaches tailored to the Bulgarian population. Further research is needed to validate these results and improve clinical outcomes.

摘要

肺腺癌呈现出由关键致癌驱动因素和肿瘤抑制基因改变所塑造的异质性分子格局。突变频率因地域而异,受遗传血统和环境因素影响。然而,保加利亚患者肺腺癌的分子特征在很大程度上仍未得到充分描述。我们对147例保加利亚转移性肺腺癌患者进行了一项前瞻性研究,使用下一代测序分析临床病理特征和体细胞突变频率。评估关键突变及其发生率,并与其他人群已发表的数据进行比较。该队列主要包括男性患者(68.0%),中位年龄为67岁。 突变最为常见(41.5%),其次是 改变(19.0%)和 c.34G>T(p.Gly12Cys)(17.0%)。超过一半的患者(51.0%)携带两种或更多种基因突变。突变频率与欧洲队列密切一致,与东亚人群相比, 突变的发生率较低。这项研究描述了保加利亚肺腺癌的分子格局,突出了 和 突变的优势。研究结果强调了进行全面分子谱分析以指导靶向治疗并支持针对保加利亚人群的精准肿瘤学方法的必要性。需要进一步研究来验证这些结果并改善临床结局。

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