scholarly journals Next-generation sequencing of circulating tumor DNA for detection of gene mutations in lung cancer: implications for precision treatment

2018 ◽  
Vol Volume 11 ◽  
pp. 9111-9116 ◽  
Author(s):  
Jinhuo Lai ◽  
Bin Du ◽  
Yao Wang ◽  
Riping Wu ◽  
Zongyang Yu
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Gene Mutations ◽  
Circulating Tumor Dna ◽  
Next Generation ◽  
Tumor Dna ◽  
Generation Sequencing

scholarly journals Detection of genes mutations in cerebrospinal fluid circulating tumor DNA from neoplastic meningitis patients using next generation sequencing

2019 ◽  
Author(s):  
Yue Zhao ◽  
JunYing He ◽  
Li Guo ◽  
YueLi Zou ◽  
JunZhao Cui ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Next Generation Sequencing ◽  
Gene Mutations ◽  
Circulating Tumor Dna ◽  
Copy Number Variations ◽  
Neoplastic Meningitis ◽  
Diagnostic Strategy ◽  
Next Generation ◽  
Tumor Dna ◽  
Generation Sequencing

Abstract Background This study profiled the somatic gene mutations and the copy number variations (CNVs) in cerebrospinal fluid (CSF)-circulating tumor DNA (ctDNA) from patients with neoplastic meningitis (NM).Methods A total of 62 CSF ctDNA samples were collected from 58 NM patients for the next generation sequencing. The data were blasted in GenBank and bioinformatically analyzed.Results Cancer-associated gene mutations occurred in all 62 CSF ctDNA samples in TP53 (54/62; 87.10%), EGFR (44/62; 70.97%), PTEN (39/62; 62.90%), CDKN2A (32/62; 51.61%), APC (27/62: 43.55%), TET2 (27/62; 43.55%), GNAQ (18/62; 29.03%), NOTCH1 (17/62; 27.42%), VHL (17/62; 27.42%), FLT3 (16/62; 25.81%), PTCH1 (15/62; 24.19%), BRCA2 (13/62; 20.97%), KDR (10/62; 16.13%), KIT (9/62; 14.52%), MLH1 (9/62; 14.52%), ATM (8/62; 12.90%), CBL (8/62; 12.90%), and DNMT3A (7/62; 11.29%). The mutated genes enriched by the KEGG pathway analysis were the PI3K-Akt, which included the genes of TP53 , EGFR , PTEN , KIT and KDR. After receiving intrathecal and systemic chemotherapy, the ERK1/2 signaling pathways of these CSF samples were activated. Furthermore, the CNVs of these genes were also identified in these 62 samples.Conclusions This study identified gene mutations in all CSF ctDNA samples, indicating that such an approach could be useful as a second-line diagnostic strategy for NM patients. PI3K-Akt signaling may be the potential NM metastasis mechanism.

scholarly journals Next-generation sequencing of circulating tumor DNA for metastatic non-small cell lung cancer: a discussion on its implementation in the Brazilian clinical practice

2020 ◽  
Author(s):  
Luiz H Araujo ◽  
Carlos Gil Ferreira ◽  
Clarissa S Baldotto ◽  
Clarissa Mathias ◽  
Gilberto Castro ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Small Cell Lung Cancer ◽  
Cell Lung Cancer ◽  
Circulating Tumor Dna ◽  
Small Cell ◽  
Next Generation ◽  
Small Cell Lung ◽  
Tumor Dna ◽  
Generation Sequencing

The objective of this review is to address the barriers limiting access to next-generation sequencing (NGS) of circulating tumor DNA (ctDNA) for metastatic nonsquamous non-small cell lung cancer in Brazil and to propose its implementation in practice. A selected panel of lung cancer experts was provided with relevant prompts to address at a conference; a paper was then compiled on the topic. The authors propose specific and realistic recommendations for implementing access to ctDNA NGS. Further, the authors address all barriers and impediments mentioned within this review. There is a great need to increase ctDNA NGS for cancer care in Brazil. Adapting the current cancer testing framework is essential to expanding the use of this tool.

scholarly journals Detection of genes mutations in cerebrospinal fluid circulating tumor DNA from neoplastic meningitis patients using next generation sequencing

2020 ◽  
Author(s):  
Yue Zhao ◽  
JunYing He ◽  
JunZhao Cui ◽  
Zi-Qi Meng New ◽  
YueLi Zou ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Next Generation Sequencing ◽  
Gene Mutations ◽  
Circulating Tumor Dna ◽  
Copy Number Variations ◽  
Neoplastic Meningitis ◽  
Next Generation ◽  
Somatic Gene ◽  
Tumor Dna ◽  
Generation Sequencing

Abstract Background: This study profiled the somatic gene mutations and the copy number variations (CNVs) in cerebrospinal fluid (CSF)-circulating tumor DNA (ctDNA) from patients with neoplastic meningitis (NM). Methods: A total of 62 CSF ctDNA samples were collected from 58 NM patients for the next generation sequencing. The data were blasted in GenBank and bioinformatically analyzed. Results: Cancer-associated gene mutations occurred in all 62 CSF ctDNA samples in TP53 (54/62; 87.10%), EGFR (44/62; 70.97%), PTEN (39/62; 62.90%), CDKN2A (32/62; 51.61%), APC (27/62: 43.55%), TET2 (27/62; 43.55%), GNAQ (18/62; 29.03%), NOTCH1 (17/62; 27.42%), VHL (17/62; 27.42%), FLT3 (16/62; 25.81%), PTCH1 (15/62; 24.19%), BRCA2 (13/62; 20.97%), KDR (10/62; 16.13%), KIT (9/62; 14.52%), MLH1 (9/62; 14.52%), ATM (8/62; 12.90%), CBL (8/62; 12.90%), and DNMT3A (7/62; 11.29%). The mutated genes enriched by the KEGG pathway analysis were the PI3K-Akt, which included the genes of TP53, EGFR, PTEN, KIT and KDR. After receiving intrathecal and systemic chemotherapy, the ERK1/2 signaling pathways of these CSF samples were activated. Furthermore, the CNVs of these genes were also identified in these 62 samples. Conclusions: This study identified gene mutations in all CSF ctDNA samples, indicating that these mutated genes may be acted as a kind of biomarker for diagnosis of NM, and these mutated genes may affect meningeal metastasis through PI3K-Akt signaling pathway.

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