Molecular charcterization of lung adenocarcinoma combining whole exome sequencing, copy number analysis and gene expression profiling

Expert Rev Mol Diagn. 2022 Jan;22(1):77-100. doi: 10.1080/14737159.2022.2017774. Epub 2021 Dec 22.

Abstract

Introduction: Lung cancer is the leading cause of cancer mortality worldwide; lung adenocarcinoma (LUAD) corresponds to about 40% of lung cancers. LUAD is a genetically heterogeneous disease and the definition of this heterogeneity is of fundamental importance for prognosis and treatment.

Areas covered: Based on primary literature, this review provides an updated analysis of multiomics studies based on the study of mutation profiling, copy number alterations and gene expression allowing for definition of molecular subgroups, prognostic factors based on molecular biomarkers, and identification of therapeutic targets. The authors sum up by providing the reader with their expert opinion on the potentialities of multiomics analysis of LUADs.

Expert opinion: A detailed and comprehensive study of the co-occurring genetic abnormalities characterizing different LUAD subsets represents a fundamental tool for a better understanding of the disease heterogeneity and for the identification of subgroups of patients responding or resistant to targeted treatments and for the discovery of new therapeutic targets. It is expected that a comprehensive characterization of LUADs may provide a fundamental contribution to improve the survival of LUAD patients.

Keywords: DNA sequencing; Lung cancer; copy number analysis; gene expression profiling; lung adenocarcinoma; next generation sequencing; personalized medicine; precision medicine.

Publication types

  • Review

MeSH terms

  • Adenocarcinoma of Lung* / genetics
  • Biomarkers, Tumor / genetics
  • DNA Copy Number Variations
  • Exome Sequencing
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / drug therapy
  • Lung Neoplasms* / genetics

Substances

  • Biomarkers, Tumor