Analytical validation of the LungLB test: a 4-color fluorescence in-situ hybridization assay for the evaluation of indeterminate pulmonary nodules

BMC Pulm Med. 2024 Sep 27;24(1):475. doi: 10.1186/s12890-024-03280-7.

Abstract

Background: Evaluation of indeterminate pulmonary nodules (IPNs) often creates a diagnostic conundrum which may delay the early detection of lung cancer. Rare circulating genetically abnormal cells (CGAC) have previously demonstrated utility as a biomarker for discriminating benign from malignant small IPNs in the LungLB assay. CGAC are identified using a unique 4-color fluorescence in-situ hybridization (FISH) assay and are thought to reflect early cell-based events in lung cancer pathogenesis and the anti-tumor immune response. LungLB is a prognostic tool that combines the CGAC biomarker and clinical features to aid in IPN evaluation by improving the stratification of patient risk of malignancy.

Methods: Herein we describe the analytical performance of the LungLB blood test. Analytical validation was performed according to Clinical and Laboratory Standards Institute (CLSI) guidelines with adaptations for rare cell-based assays. Multiple operators, reagent lots, and assay runs were tested to examine accuracy, precision, reproducibility, and interfering factors.

Results: The FISH probes used in the LungLB assay demonstrate 100% sensitivity and specificity for their intended chromosomal loci (3q29, 3p22.1, 10q22.3 and 10cen). LungLB demonstrates analytical sensitivity of 10 CGAC per 10,000 lymphocytes analyzed, 100% analytical specificity, and high linearity (R2 = 0.9971). Within run measurements across 100 samples demonstrated 96% reproducibility. Interfering factors normally found in blood (lipemia, biotin) and exposure to adverse temperatures (-20ºC or 37ºC) did not interfere with results. Sample stability was validated to 96 hours.

Conclusion: The analytical performance of LungLB in this validation study successfully demonstrates it is robust and suitable for everyday clinical use.

Keywords: Analytical validation; CGAC; Circulating Genetically Abnormal Cell; Indeterminate lung nodule; LungLB.

Publication types

  • Validation Study

MeSH terms

  • Biomarkers, Tumor / genetics
  • Humans
  • In Situ Hybridization, Fluorescence* / methods
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / pathology
  • Multiple Pulmonary Nodules* / diagnosis
  • Multiple Pulmonary Nodules* / genetics
  • Multiple Pulmonary Nodules* / pathology
  • Neoplastic Cells, Circulating / pathology
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Biomarkers, Tumor