The genomic landscape of lung adenocarcinoma—insights towards personalized medicine

2021 ◽  
Author(s):  
Ovleen Kour ◽  
Minakshi Garg
Keyword(s):  
Personalized Medicine ◽  
Lung Adenocarcinoma ◽  
Genomic Landscape

Genomic profiling of pulmonary lymphoepithelioma-like carcinoma (PLELC).

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1572-1572 ◽  
Author(s):  
Chengzhi Zhou ◽  
Zhanhong Xie ◽  
Yinyin Qin ◽  
Laiyu Liu ◽  
Hua Zhang ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Primary Lung Cancer ◽  
Distinct Type ◽  
Driver Mutation ◽  
Driver Genes ◽  
Tissue Samples ◽  
Barr Virus ◽  
Genomic Landscape ◽  
Epigenetic Regulators ◽  
Epstein Barr

1572 Background: PLELC, a rare and distinct type of primary lung cancer, is characterized by Epstein-Barr virus (EBV) infection. Histologically, it resembles undifferentiated nasopharyngeal carcinomas (NPC). Only a few hundred cases have been reported since its discovery. Due to the extreme rareness, its genomic landscape remains elusive. Methods: Tissue samples of 27 PLELC patients (13 males and 14 females) with various stages (Ib to IV) were subjected to targeted sequencing using a panel consisting of 520 cancer-related genes, spanning 1.6Mb of human genome. Results: Collectively, we identified 184 somatic mutations spanning 109 genes, including 107 SNVs, 12 insertions or deletions (INDELs) and 65 copy-number amplifications (CNAs). Approximately, 50% of patients had CNAs. One patient had no mutation detected from this panel. Except for 2 patients, 1 with HER2 amplification and another with KRAS mutation, no other classic NSCLC driver genes were detected. The most frequently mutated genes were CCND1, TP53, DAXX and NF kBIA, occurring in 30%, 26%, 22% and 22% of patients, respectively. Interestingly, 78% (21/27) patients had mutations in epigenetic regulators. Of the 184 mutations identified, 51 occurred in epigenetics-related genes. Pathway analysis also revealed an enrichment of genes participating in chromatin remodeling and organization. Next, we compared the genomic profile of PLELC with lung adenocarcinoma and EBV positive NPC. The frequency of TP53 mutations was significantly higher in lung adenocarcinoma (68% vs 26%, p = 0.021). Comparing to NPC, PLELC had significantly more mutations in epigenetic regulators. TMB analysis revealed a median TMB of 1.6/Mb, significantly lowered than lung adenocarcinomas (p < 0.01). We also assessed PD-L1expression and revealed that 67% had an overexpression of PD-L1. Interestingly, TP53-mutant patients were more likely to associated low PD-L1 expression (p < 0.01). Conclusions: In this study, we elucidated a distinct genomic landscape associated with PLELC with no classic NSCLC driver mutation but an enrichment of mutations in epigenetic regulators. The observation of high expression of PD-L1 and lack of canonical druggable driver mutation raises the potential of immunocheckpoint blockade therapy for PLELC.

scholarly journals Genomic Landscape of Liquid Biopsy for Hepatocellular Carcinoma Personalized Medicine

2021 ◽  
Vol 18 (3 Suppl) ◽  
pp. 369-383
Author(s):  
NURBUBU T. MOLDOGAZIEVA ◽  
SERGEY P. ZAVADSKIY ◽  
ALEXANDER A. TERENTIEV
Keyword(s):  
Hepatocellular Carcinoma ◽  
Personalized Medicine ◽  
Liquid Biopsy ◽  
Genomic Landscape

scholarly journals Genomic Landscape of Atypical Adenomatous Hyperplasia Reveals Divergent Modes to Lung Adenocarcinoma

2017 ◽  
Vol 77 (22) ◽  
pp. 6119-6130 ◽  
Author(s):  
Smruthy Sivakumar ◽  
F. Anthony San Lucas ◽  
Tina L. McDowell ◽  
Wenhua Lang ◽  
Li Xu ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Atypical Adenomatous Hyperplasia ◽  
Adenomatous Hyperplasia ◽  
Genomic Landscape

scholarly journals The Role of Genetics in Sporadic GEP-NETs: A Comprehensive Review of the Literature

2017 ◽  
Vol 8 (1) ◽  
pp. 1-5
Author(s):  
George Fotopoulos ◽  
Ioannis Vathiotis ◽  
George C. Nikou ◽  
Konstantinos Syrigos
Keyword(s):  
Nervous System ◽  
Targeted Therapy ◽  
Personalized Medicine ◽  
Molecular Basis ◽  
Current Knowledge ◽  
Review Of The Literature ◽  
Comprehensive Review ◽  
Cell Compartments ◽  
Genomic Landscape

AbstractNeuroendocrine tumors (NETs) are composed of a heterogeneous group of malignancies from neuroendocrine cell compartments, with roles in both the endocrine and the nervous system. The majority of NETs are gastroenteropancreatic (GEP) in origin, arising in the foregut, midgut, or hindgut. The genomic landscape of GEP-NETs has been scarcely studied in terms of genomic profiling.The following algorithm was followed using the keywords neuroendocrine, genomics, targeted therapy, personalized medicine, gastroenteropancreatic and NET. The search was performed in PubMed and ScienceDirect database. Our current knowledge of sporadic GEP-NETs genetics must be further advanced to elucidate the molecular basis and pathogenesis of the disease, improve the accuracy of diagnosis, and guide tailor-made therapies.

scholarly journals Genomic landscape and evolution of arm aneuploidy in lung adenocarcinoma

Neoplasia ◽  
2021 ◽  
Vol 23 (9) ◽  
pp. 870-878
Author(s):  
Beili Gao ◽  
Fujun Yang ◽  
Ming Han ◽  
Hua Bao ◽  
Yi Shen ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Genomic Landscape

50. Personalized medicine in practice: Comprehensive cytogenomic profiling of a lung adenocarcinoma leads to re-classification of a concurrent lymphoma

2021 ◽  
Vol 252-253 ◽  
pp. S17-S18
Author(s):  
Panieh Terraf ◽  
Annette S. Kim ◽  
Shuji Ogino ◽  
Adrian M. Dubuc
Keyword(s):  
Personalized Medicine ◽  
Lung Adenocarcinoma

57. Personalized medicine in practice: Genomic profiling of a lung adenocarcinoma leads to re-classification of a lymphoma

2020 ◽  
Vol 244 ◽  
pp. 22
Author(s):  
Panieh Terraf ◽  
Annette Kim ◽  
David Hwang ◽  
Adrian Dubuc
Keyword(s):  
Personalized Medicine ◽  
Lung Adenocarcinoma ◽  
Genomic Profiling

scholarly journals Genomic Landscape and Immune Microenvironment Features of Preinvasive and Early Invasive Lung Adenocarcinoma

2019 ◽  
Vol 14 (11) ◽  
pp. 1912-1923 ◽  
Author(s):  
Chao Zhang ◽  
Jianjun Zhang ◽  
Fang-Ping Xu ◽  
Yin-Guang Wang ◽  
Zhi Xie ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Immune Microenvironment ◽  
Genomic Landscape ◽  
Invasive Lung Adenocarcinoma
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