scholarly journals Targeted Hot Spot Sequencing of Uzbek Lung Cancer Patients

2021 ◽  
Vol 14 (1) ◽  
pp. 385-390
Author(s):  
Mirakbarova Z ◽  
Turdikulova S. H

Objectives: Carcinoma of lung is a widespread multifactorial disease with a poor prognosis. Uzbek lung cancer patients screening for prevalent mutations, associated with cancer development by targeted next generation sequencing was the main objective of current research. Materials and methods: Preparation of sequencing libraries was conducted using the Illumina Cancer Hot spot Panel v2 covering mutational hot spot regions of 50 cancer genes, from DNA extracted from formalin-fixed paraffin-embedded tumor samples of 10 patients. Sequencing was performed with the Mi Seq Next Generation Sequencing machine(NGS). Results: Hot spot mutations data analysis revealed clinically benign mutations in allstudied samples, with 70% having 3 or more mutations stored in the COSMIC database.According to ClinVarFGFR3 gene was associated with Crouzon syndrome with acanthosis nigricans, PDGFRA, EGFR and TP53 gene mutations were corellated with Idiopathic hypereosinophilic syndrome, Lung cancer and Glioma susceptibility respectively.KIT and KDR gene mutations were, respectively, associated with Gastrointestinal stromal tumor and Hemangioma, capillary infantile. Synonymous variants in RET and HRAS genes, were associated congenital central hypoventilation and epidermal nevus syndrome respectively. EGFR gene mutations occurred exclusively in patients with adenocarcinoma G2. where as MET and BRAF mutations were identified in bronchioalveolar cancer samples. Conclusion. In conclusion, particular polymorphisms and mutations affect treatment response and the toxicity level among patients with lung cancer, undergoing chemotherapy. Variety of SNPs were reported to have impact on disease outcomes of those patients, therefore they should be validated in an independent population, prior to being adopted for pre-personalised therapy screening.

2019 ◽  
Vol 26 (1) ◽  
pp. 109-114 ◽  
Author(s):  
Panwen Tian ◽  
Xiangyang Cheng ◽  
Zhengyi Zhao ◽  
Yuzi Zhang ◽  
Celimuge Bao ◽  
...  

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. e12521-e12521
Author(s):  
Jessica Ribeiro Gomes ◽  
Raphael Brandao Moreira ◽  
Renata D'Alpino D'Alpino ◽  
Marcelo Rocha S Cruz ◽  
Tercia Tarciane Soares de Sousa ◽  
...  

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Julie A. Vendrell ◽  
Sylvie Taviaux ◽  
Benoît Béganton ◽  
Sylvain Godreuil ◽  
Patricia Audran ◽  
...  

2020 ◽  
Vol 52 (2) ◽  
pp. 543-551 ◽  
Author(s):  
Eunhyang Park ◽  
Hyo Sup Shim

PurposeEpidermal growth factor receptor (<i>EGFR</i>), anaplastic lymphoma kinase (<i>ALK</i>), and ROS proto-oncogene 1 (<i>ROS1</i>) are ‘must-test’ biomarkers in the molecular diagnostics of advanced-stage lung cancer patients. Although single-gene assays are currently considered the gold standard for these genes, next-generation sequencing (NGS) tests are being introduced to clinical practices. We compared the results of current diagnostics and aimed to suggest timely effective guidance for their clinical use. Materials and MethodsPatients with lung cancer who received both conventional single-gene assays and subsequent targeted NGS testing were enrolled, and the results of their tests were compared. ResultsA total of 241 patients were enrolled, and the <i>EGFR</i> real-time polymerase chain reaction, <i>ALK</i> fluorescence <i>in situ</i> hybridization (FISH), and <i>ROS1</i> FISH assays exhibited 92.9%, 99.6%, and 99.5% concordance with the NGS tests, respectively. The discordant cases were mostly false-negatives of the single-gene assays, probably due to technical limitation. Of 158 cases previously designated as wild-type, <i>EGFR</i>, <i>ALK</i>, and <i>ROS1</i> alterations were identified in 10.1%, 1.9%, and 1.3%, respectively, and other targetable alterations were identified in 36.1% of the cases. Of patients with additionally identified actionable alterations, 32.6% (31/95) received matched therapy with a clinical benefit of 48.4% (15/31). ConclusionEven though the conventional and NGS methods were concordant in the majority of cases, NGS testing still revealed a considerable number of additional <i>EGFR</i>, <i>ALK</i>, and <i>ROS1</i> alterations, as well as other targetable alterations, in Korean advanced-stage lung cancer patients. Given the high frequency of <i>EGFR</i> and other targetable mutations identified in the present study, NGS testing is highly recommended in the diagnosis of Korean lung cancer patients.


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