Updates in the molecular pathology of non-small cell lung cancer

Semin Diagn Pathol. 2021 Sep;38(5):54-61. doi: 10.1053/j.semdp.2021.04.001. Epub 2021 Apr 25.

Abstract

An understanding of the molecular pathology of non-small cell lung cancer (NSCLC) is important for pathologists as molecular characterization is now required for treatment decisions in advanced stage disease. While assessment for EGFR mutations, ALK and ROS1 fusions, and in some countries BRAF mutations, is now standard practice, other oncogenic mutations are also emerging that may impact routine clinical practice including alterations involving KRAS, NTRK, RET, MET and HER2. In addition, molecular pathology alterations of NSCLC are associated with responses to immune checkpoint therapy and are being increasingly investigated. Finally, specific molecular pathological alterations define some rarer subtypes of NSCLC such as salivary gland tumours, NUT carcinoma and SMARCA4-deficient undifferentiated tumour, and an understanding of the molecular pathology is important for their accurate diagnosis. In this review, the molecular pathology of NSCLC is discussed with a focus on clinically relevant molecular alterations.

Keywords: ALK; Epidermal growth factor receptor; Molecular pathology; Non-small cell lung cancer; ROS1.

Publication types

  • Review

MeSH terms

  • Carcinoma, Non-Small-Cell Lung* / genetics
  • DNA Helicases
  • Humans
  • Lung Neoplasms* / genetics
  • Mutation
  • Nuclear Proteins
  • Pathology, Molecular
  • Protein-Tyrosine Kinases / genetics
  • Proto-Oncogene Proteins / genetics
  • Transcription Factors

Substances

  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • Transcription Factors
  • Protein-Tyrosine Kinases
  • SMARCA4 protein, human
  • DNA Helicases