Cokpinar Salih, Erdogdu Ibrahim Halil, Orenay-Boyacioglu Seda, Boyacioglu Olcay, Kahraman-Cetin Nesibe, Meteoglu Ibrahim
Department of Thoracic Surgery, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye.
Department of Molecular Pathology, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye.
J Clin Med. 2024 Dec 8;13(23):7472. doi: 10.3390/jcm13237472.
Understanding mutations and co-mutations in non-small cell lung carcinoma (NSCLC) is critical to developing personalized treatment strategies. Therefore, this study aims to investigate mutations and the accompanying somatic variations in NSCLC. This retrospective study included 98 patients over 18 years of age who were diagnosed with NSCLC, operated on, and referred to the Molecular Pathology Laboratory between January 2019 and June 2024 for next-generation sequencing panel tests and FISH analysis. All patients were found to carry mutations. Among the 98 NSCLC patients analyzed, 16 (16.33%) were female and 82 (83.67%) were male. The average age of the patients was 64.53 ± 9.63 years, with an age range of 38-84 years, and the majority were 50 years or older. Of the cases, 51 presented the adenocarcinoma subtype, while the remaining 47 showed the squamous cell carcinoma subtype. A smoking history was present in 77 (78.57%) patients, while 21 (21.43%) had no smoking history. The most frequently detected pathogenic or likely pathogenic variations were p.E545K (32.65%), p.E542K (11.22%), p.H1047R (11.22%), p.H1047L (5.10%), p.E453Q (4.08%), and p.H1048R (2.04%). The top 10 mutations that most commonly accompanied variations were , , , , , , , , , and mutations, respectively. variations, along with other gene variations, may influence cancer progression and thus may play a crucial role in the determination of targeted treatment strategies.
了解非小细胞肺癌（NSCLC）中的突变和共突变对于制定个性化治疗策略至关重要。因此，本研究旨在调查NSCLC中的突变及伴随的体细胞变异。这项回顾性研究纳入了98名18岁以上被诊断为NSCLC、接受了手术治疗并于2019年1月至2024年6月期间转诊至分子病理实验室进行二代测序panel检测和FISH分析的患者。所有患者均被发现携带突变。在分析的98例NSCLC患者中，女性16例（16.33%），男性82例（83.67%）。患者的平均年龄为64.53±9.63岁，年龄范围为38 - 84岁，大多数患者年龄在50岁及以上。其中，51例为腺癌亚型，其余47例为鳞状细胞癌亚型。77例（78.57%）患者有吸烟史，21例（21.43%）无吸烟史。最常检测到的致病性或可能致病性变异为p.E545K（32.65%）、p.E542K（11.22%）、p.H1047R（11.22%）、p.H1047L（5.10%）、p.E453Q（4.08%）和p.H1048R（2.04%）。最常伴随变异的前10种突变分别为 、 、 、 、 、 、 、 、 、 和 突变。变异以及其他基因变异可能会影响癌症进展，因此可能在确定靶向治疗策略中起关键作用。
