Molecular Cytology Applications on the Lung

  • Alessia Di Lorito
  • Daniel Stieber
  • Fernando C. Schmitt


Lung cancer is the leading cause of cancer death in the world. Lung cytopathology is a significant part of the cytopathology practice. Less than 30% of patients with non-small cell lung cancer (NSCLC) are eligible for surgical treatment, and more than 70% of the NSCLCs have only cytological specimens available for molecular analysis. The most frequently used techniques to obtain material are bronchoscopy and fine-needle aspiration (FNA), performed under imaging guidance; EUS-guided FNA is used to stage lung cancer and to study mediastinal lesions. These materials are used to determine the origin and the nature of the lesions and to apply ancillary techniques. The development of molecular heterogeneity in NSCLC has led to the identification of molecular subgroups, which are responsive to target therapies, especially in lung adenocarcinoma that is the most common histological subtype. The clinical relevance of EGFR (epidermal growth factor receptor) and KRAS (Kirsten rat sarcoma viral oncogene) mutational status has been established, and testing these mutations by sequencing or RT-PCR (Reverse transcriptase polymerase chain reaction) methods has become a standard practice. The discovery of ALK (anaplastic lymphoma kinase) translocations and the responsiveness of these tumors to ALK inhibitors have led to study them by FISH (fluorescence in situ hybridization) and RT-PCR. Other genes such as ROS1, RET, and c-Met have been routinely assessed for targeted therapies. Recently the introduction of next-generation sequencing has focused on new gene alterations, although their clinical relevance has not been well established, yet. Recently, gene panels RNA-based to check rearrangements are under evaluation, and probably in future they will be developed also in clinical settings in order to find all molecular alterations.


Lung cytology NSCLC Molecular techniques NGS 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Alessia Di Lorito
    • 1
  • Daniel Stieber
    • 2
  • Fernando C. Schmitt
    • 3
    • 4
    • 5
  1. 1.Department of Medicine and Science of AgingG. d’Annunzio University ChietiPescaraItaly
  2. 2.National Health LaboratoryDudelangeLuxembourg
  3. 3.Medical Faculty of Porto UniversityPortoPortugal
  4. 4.I3S, Instituto de Investigação e Inovaçāo em Saúde, Universidade do PortoPortoPortugal
  5. 5.IPATIMUP, Institute of Molecular Pathology and Immunology of Porto UniversityPortoPortugal

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