Next generation sequencing in lung cancer: An initial experience from India

Gupta, Purva; Saha, Kallol; Vinarkar, Sushant; Banerjee, Saheli; Choudhury, Sourav Sarma; Parihar, Mayur; Midha, Divya; Mukherjee, Geetashree; Lingegowda, Dayananda; Chatterjee, Sanjoy; ArunsinghS, Moses; Shrimali, R.K.; Ganguly, Sandip; Dabkara, Deepak; Biswas, Bivas; Mishra, Deepak Kumar; Arora, Neeraj

doi:10.1016/j.currproblcancer.2020.100562

Cited by 6 publications

(7 citation statements)

References 19 publications

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“…2 , 5 Kirsten rat sarcoma 2 viral oncogene homolog is more common in Western countries (20-40%), in the United States (15-35%) and has been observed at lower rates (10-14%) in Asian countries. 12 , 17 In a single-centered study in Turkey, it was reported to be 35.4%. 28 In previous studies, KRAS mutations were frequently localized in exons 2 and 3 occurring in codon 12 as a 70% guanine-thymine transversion.…”

Section: Discussionmentioning

confidence: 97%

“…Kirsten rat sarcoma 2 viral oncogene homolog and EGFR are the most frequently tested mutations in patients with NSCLC. 12 , 17 Kirsten rat sarcoma 2 viral oncogene homolog mutation has been associated with poor prognosis and resistance to therapy. 2 , 5 Kirsten rat sarcoma 2 viral oncogene homolog is more common in Western countries (20-40%), in the United States (15-35%) and has been observed at lower rates (10-14%) in Asian countries.…”

Section: Discussionmentioning

confidence: 99%

“…The frequency of BRAF is about 2-4% in Western countries and patients from the United States and as 0.8-2% in Asian countries. 2 , 12 It is most frequently observed in the form of the V600E point mutation in NSCLC cases. 3 ,12,19, 23 In this study, the BRAF mutation was detected at a higher rate compared to the literature and observed in 8% of VSS cases ( Table 6 ).…”

Section: Discussionmentioning

confidence: 99%

“…Tumor cellularity was a primary exclusion criterion and the cut-off value was 5%. 12 Formalin-fixed paraffin-embedded samples of 507 cases were successfully sequenced for subsequent variation analysis. All experiments were conducted at Aydın Adnan Menderes University Hospital, Pathology Laboratory, Molecular Pathology Unit.…”

Section: Methodsmentioning

confidence: 99%

“… 11 However, testing can be performed at many sites within many genes on a single platform using next-generation sequencing (NGS), providing a comprehensive mutational profile. 11 , 12 In recent years, NGS technologies have become widespread, cost-effective, and more suitable for formalin-fixed paraffin-embedded (FFPE) tissues, making it easier to investigate mutations in lung cancers. 8 , 13 Thus, the multigene approach makes treatment protocols more efficient and provides economical use of limited tissue samples.…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer

et al. 2021

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Background Lung cancer is the most common cancer type worldwide, with non-small cell lung cancer being the most frequently studied. Identifying of cancer-related genes in non-small cell lung cancer is crucial for developing individualized treatment, particularly as mutation profiles can vary by country and ethnicity. Aims To identify comprehensive mutation profiles in a cohort of Turkish patients with non-small cell lung cancer using the next-generation sequencing. Study Design Retrospective cross-sectional study. Methods In total, 72 cancer-related genes and 4149 variants were recorded in the non-small cell lung cancer panel, and their relationship with clinical and histopathological features was investigated through next-generation sequencing. Results Among 507 patients, 420 (82.8%) were males and 87 (17.2%) were females. Percentages of phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (11%), B-Raf proto-oncogene, serine/threonine kinase (8%), and neurofibromatosis type 1 (6%) mutations were higher than those reported in the literature. Males had a higher rate of Kirsten rat sarcoma 2 viral oncogene homolog mutations ( P = .102), whereas epidermal growth factor receptor mutations were statistically more common in females ( P = .001). Multiple variants of strong significance were identified in 6.3% patients diagnosed with adenocarcinoma, most of whom were smokers. Kirsten rat sarcoma 2 viral oncogene homolog and phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha mutations were most commonly observed. Conclusion This study shows that Turkish patients have higher rates of PIK3CA, BRAF and NF1 mutations compared to the literature. Studies to determine the molecular profile specific to Turkish people will guide clinicians in treatment and contribute significantly to determining priorities in diagnosis.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer

et al. 2021

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Prognostic biomarkers correlated with immune infiltration in non‐small cell lung cancer

Cui

Liu

et al. 2022

FEBS Open Bio

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Lung cancer is the leading cause of cancer‐related mortality in men and women globally. Non‐small cell lung cancer (NSCLC) is the most prevalent subtype, accounting for 85–90% of all cancers. Although there have been dramatic advances in therapeutic approaches in recent decades, the recurrence and metastasis rates of NSCLC are as high as 30–40% with the 5‐year overall survival rate being less than 15%. Therefore, it is necessary to explore the pathogenesis of NSCLC at the genetic level and identify prognostic biomarkers and novel therapeutic targets. Here, we aimed to identify mutated genes with high frequencies in Chinese NSCLC patients using next‐generation sequencing and to investigate their relationships with the tumor mutation burden (TMB) and tumor immune microenvironment. A total of 110 NSCLC patients were enrolled to profile the genetic variations. Mutations in EGFR (62.37%), TP53 (61.29%), LRP1B (13.98%), FAT1 (12.90%), KMT2D (11.83%), CREBBP (10.75%), and RB1 (9.68%) were most prevalent. TP53, LRP1B, KMT2D, and CREBBP mutations were all significantly associated with high TMB (P < 0.05 or P < 0.01). The infiltrating levels of immune cells and immune molecules were enriched significantly in the LRP1B mutation group. LRP1B mutations significantly correlated with stimulating and inhibitory immunoregulators. Gene set enrichment analysis revealed that cell cycle, the Notch signaling pathway, the insulin signaling pathway, and the mTOR signaling pathway are related to LRP1B mutations in the immune system. LRP1B mutations may be of clinical importance in enhancing the anti‐tumor immune response and may be a promising biomarker for predicting immunotherapy responsiveness.

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Lung cancer in India: The rewards of REWERDS (REal World Evidence from Retrospective Data analysiS)

Singh

2020

Current Problems in Cancer

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Next generation sequencing in lung cancer: An initial experience from India

Cited by 6 publications

References 19 publications

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer

Prognostic biomarkers correlated with immune infiltration in non‐small cell lung cancer

Lung cancer in India: The rewards of REWERDS (REal World Evidence from Retrospective Data analysiS)

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