Concordance in molecular genetic analysis of tumour tissue, plasma, and exhaled breath condensate samples from lung cancer patients
| Autor: | Yasemin Basbinar, Cumhur Gündüz, Ayca Aykut, Ceyda Aldag, Füsun Okçu Pelit, Umut Can Uzun, Fatma Nil Ertaş, Korcan Korba, Ozlem Goksel, Aslı Tetik Vardarlı, Caglar Celebi, Tuncay Göksel, Levent Pelit, Tugberk Nail Dizdas, Ertan Baysal, Haydar Karakus, Ali Veral, Femin Yalcin, Eda Tayfur |
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| Přispěvatelé: | Ege Üniversitesi |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pulmonary and Respiratory Medicine
Oncology Adult Male exhaled breath condensate medicine.medical_specialty Lung Neoplasms driver mutations Concordance Adenocarcinoma of Lung medicine.disease_cause 01 natural sciences 03 medical and health sciences 0302 clinical medicine Internal medicine medicine PTEN Humans Exhaled breath condensate Lung cancer Molecular Biology Aged volatile biopsy Lung biology business.industry 010401 analytical chemistry Amplicon Middle Aged medicine.disease lung adenocarcinoma 0104 chemical sciences respiratory tract diseases medicine.anatomical_structure 030228 respiratory system Breath Tests Exhalation Mutation biology.protein Adenocarcinoma Female KRAS business |
| Popis: | Aim. Lung adenocarcinoma is characterized by poor prognosis and short survival rates. Therefore, tools to identify the tumoural molecular structure and guide effective diagnosis and therapy decisions are essential. Surgical biopsies are highly invasive and not conducive for patient follow-up. To better understand disease prognosis, novel non-invasive analytic methods are needed. the aim of the present study is to identify the genetic mutations in formalin-fixed paraffin-embedded (FFPE) tissue, plasma, and exhaled breath condensate (EBC) samples by next-generation sequencing and evaluate their utility in the diagnosis and follow-up of patients with lung adenocarcinoma. Method. FFPE, plasma, and EBC samples were collected from 12 lung adenocarcinoma patients before treatment. DNA was extracted from the specimens using an Invitrogen PureLink Genomic DNA Kit according to the manufacturer's instructions. Amplicon-based sequencing was performed using Ion AmpliSeq Colon and Lung Cancer Research Panel v2. Results. Genetic alterations were detected in all FFPE, plasma, and EBC specimens. the mutations in PIK3CA, MET, PTEN, SMAD4, and FGFR2 genes were highly correlated in six patients. Somatic and novel mutations detected in tissue and EBC samples were highly correlated in one additional patient. the EGFR p.L858R and KRAS p.G12C driver mutations were found in both the FFPE tissue specimens and the corresponding EBC samples of the lung adenocarcinoma patients. Conclusion. the driver mutations were detected in EBC samples from lung adenocarcinoma patients. the analysis of EBC samples represents a promising non-invasive method to detect mutations in lung cancer and guide diagnosis and follow-up. Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [TUBITAK-1003-216S591, 216S435] The research project was supported by the Scientific and Technological Research Council of Turkey (TUBITAK-1003-216S591 and 216S435). |
| Databáze: | OpenAIRE |
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