GENSIGNIA's miRNA signature classifier (MSC) - Lung Cancer Test is a molecular diagnostic assay to detect lung cancer-related microRNA in plasma.
In recent years circulating miRNAs have become attractive candidates to be used as cancer biomarkers.
Our Scientific team has identified miRNA signatures to address the unmet clinical need for a molecular marker-based non-invasive test for early diagnosis of lung cancer in subjects at risk.
See key publications related to our discovery and the related field.


Key Publications

Sozzi, G. et al., Clinical Utility of a Plasma-Based miRNA Signature Classifier Within Computed Tomography Lung Cancer Screening: A Correlative MILD Trial Study, JCO published online on January 13, 2014; DOI:10.1200/JCO.2013.50.4357.


Purpose: Recent screening trial results indicate that low-dose computed tomography (LDCT) reduces lung cancer mortality in high-risk patients. However, high false-positive rates, costs, and potential harms highlight the need for complementary biomarkers. The diagnostic performance of a noninvasive plasma microRNA signature classifier (MSC) was retrospectively evaluated in samples prospectively collected from smokers within the randomized Multicenter Italian Lung Detection (MILD) trial.

Patients and Methods: Plasma samples from 939 participants, including 69 patients with lung cancer and 870 disease-free individuals (n = 652, LDCT arm; n = 287, observation arm) were analyzed by using a quantitative reverse transcriptase polymerase chain reaction–based assay for MSC. Diagnostic performance of MSC was evaluated in a blinded validation study that used prespecified risk groups.

Results: The diagnostic performance of MSC for lung cancer detection was 87% for sensitivity and 81% for specificity across both arms, and 88% and 80%, respectively, in the LDCT arm. For all patients, MSC had a negative predictive value of 99% and 99.86% for detection and death as a result of disease, respectively. LDCT had sensitivity of 79% and specificity of 81% with a false-positive rate of 19.4%. Diagnostic performance of MSC was confirmed by time dependency analysis. Combination of both MSC and LDCT resulted in a five-fold reduction of LDCT false-positive rate to 3.7%. MSC risk groups were significantly associated with survival (χ12 = 49.53; P < .001).

Conclusion: This large validation study indicates that MSC has predictive, diagnostic, and prognostic value and could reduce the false-positive rate of LDCT, thus improving the efficacy of lung cancer screening.

Pastorino, U. Annual or biennial CT screening versus observation in heavy smokers: 5-year results of the MILD trial. Eur J Cancer Prev. 2012 May;21(3):308-15.

Fortunato O. et. al. Assessment of Circulating microRNAs in Plasma of Lung Cancer Patients. Molecules 2014, 19, 3038-3054.

Massion, P., Biomarkers to the Rescue in a Lung Nodule Epidemic. JCO March 10, 2014 vol. 32 no. 8 p. 725-726.