Greta Alì, Rossella Bruno, Mauro Savino, Riccardo Giannini, Serena Pelliccioni, Maura Menghi, Laura Boldrini, Agnese Proietti, Antonio Chella, Alessandro Ribechini, and Gabriella Fontanini (2018) Analysis of Fusion Genes by NanoString System: A Role in Lung Cytology?. Archives of Pathology & Laboratory Medicine In-Press.

Early Online Release

Analysis of Fusion Genes by NanoString System: A Role in Lung Cytology?

Greta Alì, MD; Rossella Bruno, PhD; Mauro Savino, PhD; Riccardo Giannini, PhD; Serena Pelliccioni, MLT; Maura Menghi, PhD; Laura Boldrini, PhD; Agnese Proietti, MD; Antonio Chella, MD; Alessandro Ribechini, MD; Gabriella Fontanini, MD

From the Unit of Pathological Anatomy (Drs Alì and Proietti and Ms Pelliccioni) and Pneumology (Dr Chella), the Endoscopic Section of Pneumology (Dr Ribechini), and the Program of Pleuropulmonary Pathology (Dr Fontanini), Azienda Ospedaliero Universitaria Pisana, Pisa, Italy; the Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy (Drs Bruno, Giannini, and Boldrini); and Diatech Pharmacogenetics srl, Jesi, Italy (Drs Savino and Menghi).

Reprints: Professor Gabriella Fontanini, MD, Program of Pleuropulmonary Pathology, Azienda Ospedaliero Universitaria Pisana, Via Roma 57, 56126 Pisa, Italy (email: gabriella.fontanini@med.unipi.it).

Context.— Patients with non–small cell lung cancer harboring ALK receptor tyrosine kinase (ALK), ROS proto-oncogene 1 (ROS1), and ret proto-oncogene (RET) gene rearrangements can benefit from specific kinase inhibitors. Detection of fusion genes is critical for determining the best treatment. Assessing rearrangements in non–small cell lung cancer remains challenging, particularly for lung cytology.

Objective.— To examine the possible application of the multiplex, transcript-based NanoString system (NanoString Technologies, Seattle, Washington) in the evaluation of fusion genes in lung adenocarcinoma samples.

Data sources.— This study is a narrative literature review. Studies about NanoString, gene fusions, and lung adenocarcinoma were collected from PubMed (National Center for Biotechnology Information, Bethesda, Maryland). We found 7 articles about the application of the NanoString system to detect fusion genes on formalin-fixed, paraffin-embedded tumor tissues and one article evaluating the adequacy of lung cytologic specimens for NanoString gene expression analysis.

Conclusions.— To maximize the yield of molecular tests on small lung biopsies, the NanoString nCounter system has been suggested to detect fusion genes. NanoString fusion gene assays have been successfully applied on formalin-fixed, paraffin-embedded tissues. Although there are only few studies available, the application of NanoString assays may also be feasible in lung cytology. According to available data, the NanoString system could strengthen the routine molecular characterization of lung adenocarcinoma.