Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel

Aldo Scarpa, Katarzyna Sikora, Matteo Fassan, Anna Maria Rachiglio, Rocco Cappellesso, Davide Antonello, Eliana Amato, Andrea Mafficini, Matilde Lambiase, Claudia Esposito, Emilio Bria, Francesca Simonato, Maria Scardoni, Giona Turri, Marco Chilosi, Giampaolo Tortora, Ambrogio Fassina, Nicola Normanno

Research output: Contribution to journalArticlepeer-review


Identification of driver mutations in lung adenocarcinoma has led to development of targeted agents that are already approved for clinical use or are in clinical trials. Therefore, the number of biomarkers that will be needed to assess is expected to rapidly increase. This calls for the implementation of methods probing the mutational status of multiple genes for inoperable cases, for which limited cytological or bioptic material is available. Cytology specimens from 38 lung adenocarcinomas were subjected to the simultaneous assessment of 504 mutational hotspots of 22 lung cancer-associated genes using 10 nanograms of DNA and Ion Torrent PGM next-generation sequencing. Thirty-six cases were successfully sequenced (95%). In 24/36 cases (67%) at least one mutated gene was observed, including EGFR, KRAS, PIK3CA, BRAF, TP53, PTEN, MET, SMAD4, FGFR3, STK11, MAP2K1. EGFR and KRAS mutations, respectively found in 6/36 (16%) and 10/36 (28%) cases, were mutually exclusive. Nine samples (25%) showed concurrent alterations in different genes. The next-generation sequencing test used is superior to current standard methodologies, as it interrogates multiple genes and requires limited amounts of DNA. Its applicability to routine cytology samples might allow a significant increase in the fraction of lung cancer patients eligible for personalized therapy.

Original languageEnglish
Article numbere80478
JournalPLoS One
Issue number11
Publication statusPublished - Nov 13 2013

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)


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