PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Autor: Cokpinar S; Department of Thoracic Surgery, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye., Erdogdu IH; Department of Molecular Pathology, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye., Orenay-Boyacioglu S; Department of Medical Genetics, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye., Boyacioglu O; Faculty of Engineering, Aydin Adnan Menderes University, Aydin 09010, Türkiye., Kahraman-Cetin N; Department of Molecular Pathology, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye., Meteoglu I; Department of Molecular Pathology, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2024 Dec 08; Vol. 13 (23). Date of Electronic Publication: 2024 Dec 08.
DOI: 10.3390/jcm13237472
Abstrakt: Background: Understanding PIK3CA mutations and co-mutations in non-small cell lung carcinoma (NSCLC) is critical to developing personalized treatment strategies. Therefore, this study aims to investigate PIK3CA mutations and the accompanying somatic variations in NSCLC. Methods: 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 ALK-ROS1 FISH analysis. Results: All patients were found to carry PIK3CA 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 PIK3CA variations were c.1633G>A p.E545K (32.65%), c.1624G>A p.E542K (11.22%), c.3140A>G p.H1047R (11.22%), c.3140A>T p.H1047L (5.10%), c.1357G>C p.E453Q (4.08%), and c.3143A>G p.H1048R (2.04%). The top 10 mutations that most commonly accompanied PIK3CA variations were KRAS , NF1 , TP53 , EGFR , PTEN , BRAF , KIT , CDKN2A , SMARCA4 , and ATM mutations, respectively. Conclusions: PIK3CA variations, along with other gene variations, may influence cancer progression and thus may play a crucial role in the determination of targeted treatment strategies.
Databáze: MEDLINE
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