scholarly journals Clinical Application of Next-generation Sequencing for the Diagnosis of Lung Squamous Cell Carcinoma: Is It Primary or Secondary?

2020 ◽  
Vol 59 (10) ◽  
pp. 1299-1302
Author(s):  
Hiroaki Aizawa ◽  
Takahiro Karasaki ◽  
Kazuhiro Nagayama ◽  
Aya Shinozaki-Ushiku ◽  
Hiroyuki Aburatani ◽  
...  
PLoS ONE ◽  
2013 ◽  
Vol 8 (11) ◽  
pp. e78823 ◽  
Author(s):  
Lucy F. Stead ◽  
Philip Egan ◽  
Aoife Devery ◽  
Caroline Conway ◽  
Catherine Daly ◽  
...  

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S141-S142
Author(s):  
H Xu ◽  
E Wei

Abstract Introduction/Objective Targeted therapies have been successfully used for the treatment of lung adenocarcinoma but have not been implemented in the treatment of lung squamous cell carcinoma (SqCC). In order to better understand the underlying biology of SqCC, we present comprehensive Next Generation Sequencing (NGS) data via Cancerplex from SqCC. We have observed frequent mutations in p53, CDKN2A, PTEN, CDKN2B, and TGFBR2 genes together with few new rare gene mutations. Methods Twenty-one patients with diagnosis of Lung SqCC have been selected for Cancerplex assay (Kew, Inc., Waltham, MA). Formalin-fixed tissues from these patients were used for the assay. Neoplastic tissues with tumor content higher than 20% were micro-dissected from the blocks and NGS was performed with at least 50 ng DNA content and with a limit of detection of 10% mutant alleles. The depth of coverage was 500, and the size of the targeted region was 2.8 Mb. Results were compared with published databases. Results We have observed p53 mutations in 100% cases. p53 gene mutations included single point mutations with various coding protein mutations as well as splice variants. Mutations in CDKN2A is found in 47.6% of cases; PTEN mutations in 33.3% of cases; CDKN2B mutations in 28.6% of cases, and TGFBR2 in 28.6% of cases, which has been reported as actionable variants and actionable copy number variants. Conclusion Previous literatures have provided evidence that SqCC arising in different anatomical sites share common genomic mutation patterns. Our data partially supports this finding. We demonstrated p53, CDKN2A and PTEN are among the most commonly mutated genes in lung SqCC, while a few other genes mutations does not fit in this pattern. Apparently more studies need to be done to provide a more clear genetic landscape of SqCC, which would facilitate the development of targeted therapies.


2018 ◽  
Vol 19 (2) ◽  
pp. 163-169.e4 ◽  
Author(s):  
Charles Ricordel ◽  
Alexandra Lespagnol ◽  
Francisco Llamas-Gutierrez ◽  
Marie de Tayrac ◽  
Mallorie Kerjouan ◽  
...  

2021 ◽  
Vol 15 (1) ◽  
pp. 98-110
Author(s):  
Alveiro Erira ◽  
Dabeiba Adriana García Robayo ◽  
Andrés Ignacio Chalá ◽  
Andrei Moreno Torres ◽  
Eliana Elisa Muñoz Lopez ◽  
...  

Background: Oral squamous cell carcinoma (OSCC) is the sixth most common cancer in the world, and the bacterial microbiome has been considered a risk factor that could play an important role in carcinogenesis. Objective: A bacteriome study was performed by next-generation sequencing in dental plaque, saliva, and tumor samples of 10 OSCC patients and compared with bacteriome in dental plaque and saliva of 10 patients without OSCC. Methods: DNA was extracted from all samples and sequenced by Illumina technology MiSeq™. Bioinformatic analyzes were performed for evaluated sequence quality, alpha and beta diversity, bidirectional analysis of variance (p <0.05), and principal component analysis. After establishing bacterial profiles associated with each sample and population, intragroup and intergroup comparisons were carried out. For bacteria identification compatible with eubiosis and dysbiosis processes, a screening was performed based on the frequency of appearance in all patient samples with and without OSCC. Lastly, frequency, average, standard deviation, Chi-square, and Mann Whitney test were calculated. Results: Out of the identified 1,231 bacteria in the populations under study, 45 bacterial species were selected, of which 34 were compatible with eubiosis, and 11 were compatible with dysbiosis. Among the bacteria compatible with eubiosis were species of Lactobacillus and Streptococcus, Chromobacterium violaceum, Enterobacter asburiae, Mycobacterium chubuense, Mycoplasma penetrans, and Brachyspira intermedia. Among the species associated with dysbiosis,  Providencia stuartii, Capnocytophaga canimorsus, Legionella pneumophila, and Mycoplasma hominis were notable. Conclusion: Thirty-four bacterial species may be associated with eubiosis or healthy states and 11 bacterial species could be associated with dysbiosis or pathogenic state, OSCC.


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