scholarly journals Detection of Rare Targetable EGFR Variant in Metastatic Non-small Cell Lung Carcinoma by Next Generation Sequencing: A Case Report

2020 ◽  
Author(s):  
Anurag Mehta ◽  
Ullas Batra ◽  
Mansi Sharma ◽  
Sanjeev Sharma ◽  
Shrinidhi Nathany
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Lung Carcinoma ◽  
Small Cell Lung Carcinoma ◽  
Small Cell ◽  
Next Generation ◽  
Small Cell Lung ◽  
Cell Lung Carcinoma ◽  
Generation Sequencing

Implementing amplicon-based next generation sequencing in the diagnosis of small cell lung carcinoma metastases

2015 ◽  
Vol 99 (3) ◽  
pp. 682-686 ◽  
Author(s):  
Lydia Meder ◽  
Katharina König ◽  
Jana Fassunke ◽  
Luka Ozretić ◽  
Jürgen Wolf ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Lung Carcinoma ◽  
Small Cell Lung Carcinoma ◽  
Small Cell ◽  
Next Generation ◽  
Small Cell Lung ◽  
Cell Lung Carcinoma ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing with Liquid Biopsies from Treatment-Naïve Non-Small Cell Lung Carcinoma Patients

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2049
Author(s):  
Paul Hofman
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Lung Carcinoma ◽  
Advanced Nsclc ◽  
Small Cell Lung Carcinoma ◽  
Small Cell ◽  
Small Cell Lung ◽  
Cell Lung Carcinoma ◽  
Treatment Naïve ◽  
Generation Sequencing

Recently, the liquid biopsy (LB), a non-invasive and easy to repeat approach, has started to compete with the tissue biopsy (TB) for detection of targets for administration of therapeutic strategies for patients with advanced stages of lung cancer at tumor progression. A LB at diagnosis of late stage non-small cell lung carcinoma (NSCLC) is also being performed. It may be asked if a LB can be complementary (according to the clinical presentation or systematics) or even an alternative to a TB for treatment-naïve advanced NSCLC patients. Nucleic acid analysis with a TB by next-generation sequencing (NGS) is gradually replacing targeted sequencing methods for assessment of genomic alterations in lung cancer patients with tumor progression, but also at baseline. However, LB is still not often used in daily practice for NGS. This review addresses different aspects relating to the use of LB for NGS at diagnosis in advanced NSCLC, including its advantages and limitations.

Somatic Mutation of BAP1 Can Lead to Expression Loss in Non-Small Cell Lung Carcinoma: Next Generation Sequencing and IHC Analysis in A Large Single Institute Cohort

2021 ◽  
pp. 106689692110701
Author(s):  
Tong Sun ◽  
Xi Wang ◽  
Minhua Wang ◽  
Christine Minerowicz ◽  
Harold Sanchez ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Protein Expression ◽  
Somatic Mutation ◽  
Lung Carcinoma ◽  
Small Cell Lung Carcinoma ◽  
Small Cell ◽  
Small Cell Lung ◽  
Cell Lung Carcinoma ◽  
Generation Sequencing ◽  
Expression Loss

Introduction. As a tumor suppressor, germline and somatic inactivation of BRCA1 associated protein 1 gene ( BAP1) is a common finding in mesothelioma, melanocytic tumors, clear cell renal cell carcinoma and several other epithelial, mesenchymal and neural tumors. Incidence of BAP1 genetic alterations and subsequent expression loss has not been well established in non-small cell lung carcinoma (NSCLC) by large-scale studies. Design. After IRB approval, a total of 356 NSCLC cases of our institution between July 2016 and June 2020 were reviewed. The study cohort consisted of 214 (60%) adenocarcinomas, 89 (25%) squamous cell carcinomas, and 53 (15%) diagnosed as “non-small cell lung carcinoma” without specified subtype. All tumors underwent comprehensive target cancer gene next generation sequencing (Oncomine Assay). The protein expression status of BAP1 was subsequently evaluated by immunohistochemistry. Results. BAP1 somatic mutations were detected in 8 NSCLC tumors (incidence: 2.2%). Tumors harboring BAP1 mutations were all diagnosed at advanced stage and carried at least one additional genetic alteration. Immunohistochemically, four tumors showed complete loss of BAP1 protein expression, including two adenocarcinomas which harbored different missense BAP1 mutations and another two with bioinformatically predicated deleterious frameshifting mutations. Conclusion. Compared with known BAP1 loss associated other malignancies, such as mesothelioma, inactivation of BAP1 by somatic mutation is a rare occurrence in NSCLC. BAP1 mutations and loss of expression in NSCLC are accompanied by other complex genetic alternations, suggesting BAP1 mutation maybe a late event NSCLC carcinogenesis.

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