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

Curr Probl Cancer. 2020 Jun;44(3):100562. doi: 10.1016/j.currproblcancer.2020.100562. Epub 2020 Feb 28.

Abstract

Introduction: Approximately 35% of NSCLC patients in East Asia have EGFR mutations. Next-generation sequencing (NGS) provides a comprehensive mutational profile in lung cancer patients.

Material and method: Clinicopathologic characteristics and mutational profiling data was analyzed from nonsmall cell lung carcinoma /Adenocarcinoma over a duration of 42 months (October 2014 to March 2018) using next-generation sequencing Ion Ampliseq Cancer Hotspot panel v2 (Ampliseq, Life Technologies) on the Ion torrent PGM platform.

Results: A total of 154 cases were processed during this period. The average number of mutations/case varied from one to four 72.07% (111/154), of these cases had minimum one genetic alteration. The most common mutated gene was TP53 gene (37.6%, n = 58) followed by EGFR (32.4%, n = 50), KRAS (18.18%, n = 28), ERBB2 (3.2%, n = 5), BRAF (1.94%, n = 3). EGFR positivity was more in females (43.3%) and non-smokers (52.08%) in comparison to males (26.7%) and smokers (16.1%).

Conclusion: In this paper, we have described the comprehensive mutational profiling of a large cohort of advanced lung adenocarcinoma patients from the eastern part of India. To the best of our knowledge, this is one of the largest studies from the country describing mutations in BRAF, ERBB2, TP53 genes and their clinicopathologic/histopathologic associations in lung cancers.

Keywords: AmpliseqCHPv2; EGFR; Lung cancer; Next generation Sequencing (NGS).

MeSH terms

  • Adenocarcinoma of Lung / epidemiology
  • Adenocarcinoma of Lung / genetics
  • Adenocarcinoma of Lung / pathology*
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Non-Small-Cell Lung / epidemiology
  • Carcinoma, Non-Small-Cell Lung / genetics
  • Carcinoma, Non-Small-Cell Lung / pathology*
  • ErbB Receptors / genetics
  • Female
  • Follow-Up Studies
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • India / epidemiology
  • Lung Neoplasms / epidemiology
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology*
  • Male
  • Middle Aged
  • Mutation*
  • Prognosis
  • Retrospective Studies
  • Young Adult

Substances

  • Biomarkers, Tumor
  • EGFR protein, human
  • ErbB Receptors