Background/Objectives: The identification of driver mutations in NSCLC such as those in theEGFRandKRASgenes has revolutionized the understanding and management of many lung cancer patients and has opened up a new scenario in the early disease stages in terms of therapeutic options (EGFR) and prognosis (KRAS). Data on prevalence rates and disease stage distributions ofEGFRandKRASmutations in surgically resected NSCLC are growing, but in Southern Italy, estimation is limited, since upfrontEGFRtesting in early-stage adenocarcinoma has been only recently introduced according to the current guidelines in clinical practice, whereasKRASscreening is usually uninvestigated in resected NSCLC. In this real-life study of a single institution in the Apulia Region, we provide an overview of the epidemiological distribution ofEGFRandKRASmutations in patients in Southern Italy with resected NSCLC, highlighting their prevalence, clinical significance, and correlation with demographic and pathological factors. A literature review was also performed to compare our findings with the most recent available data from the screening of Italian cohorts of advanced and surgically resected NSCLC patients. Methods: Data from 149 patients coming from Southern Italy with surgically resected NSCLC were retrospectively collected over a period of 16 years.EGFRandKRASmutation screenings were performed and correlated with clinical and pathological data. Results: In total, 24 out of 149 NSCLC (16%) patients harbored anEGFRmutation. Exon 19 deletions and missense p.L858R mutations of theEGFRgene have quite similar frequencies (46%) and were more observed in never smokers (p< 0.001) and female (p< 0.001) patients with the adenocarcinoma histotype.KRASgene mutations were detected in 31.5% of cases, with missense p.G12C (32%), p.G12V (28%), and p.G12D (17%) mutations as the most frequent ones. NeitherEGFRnorKRASmutational status were found to impact overall survival (OS) in our study cohort. Conclusions: Our findings improve the understanding of lung cancer genetics in a small and homogeneous area of Southern Italy and guide future research. TheEGFRandKRASmutations in NSCLC resected patients from Southern Italy showed a global similar incidence compared to other recently described Italian cohorts of advanced and early-stage NSCLC, with a higher frequency of exon19EGFRdeletions. No prognostic impact was observed for bothEGFRandKRASstatus, but additional investigations on a larger cohort are needed.
背景/目的：非小细胞肺癌（NSCLC）中驱动基因突变（如EGFR和KRAS基因突变）的发现，彻底改变了对许多肺癌患者的理解和管理，并在早期疾病阶段的治疗选择（EGFR）和预后（KRAS）方面开辟了新的前景。关于手术切除NSCLC中EGFR和KRAS突变的发生率及疾病分期分布的数据不断增多，但在意大利南部，由于根据现行临床实践指南，早期腺癌的前瞻性EGFR检测最近才被引入，而KRAS筛查在切除的NSCLC中通常未被研究，因此相关评估有限。在这项针对普利亚大区单一机构的真实世界研究中，我们概述了意大利南部手术切除NSCLC患者中EGFR和KRAS突变的流行病学分布，重点分析了其发生率、临床意义以及与人口学和病理学因素的相关性。我们还进行了文献综述，将我们的发现与意大利晚期和手术切除NSCLC患者队列筛查的最新可用数据进行比较。方法：回顾性收集了16年间来自意大利南部的149例手术切除NSCLC患者的数据。进行了EGFR和KRAS突变筛查，并将其与临床和病理数据相关联。结果：在149例NSCLC患者中，共有24例（16%）携带EGFR突变。EGFR基因外显子19缺失和错义p.L858R突变的发生频率相当（均为46%），并且更多见于从不吸烟（p < 0.001）、女性（p < 0.001）的腺癌组织学类型患者。在31.5%的病例中检测到KRAS基因突变，其中错义p.G12C（32%）、p.G12V（28%）和p.G12D（17%）突变最为常见。在我们的研究队列中，未发现EGFR或KRAS突变状态对总生存期（OS）产生影响。结论：我们的研究结果增进了对意大利南部一个小型同质地区肺癌遗传学的理解，并指导未来的研究。与近期描述的其他意大利晚期和早期NSCLC队列相比，来自意大利南部的NSCLC切除患者的EGFR和KRAS突变总体发生率相似，但外显子19 EGFR缺失的发生频率更高。未观察到EGFR和KRAS状态对预后的影响，但需要对更大队列进行进一步研究。
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