Background: Development and progression of human malignancies involve multiple genetic changes. New techniques to distinguish neoplastic from benign diseases unequivocally with small amounts of cells as gained by bronchoscopy are needed to come closer to the goal of an early diagnosis in lung cancer.
Study objective: The aim of this study was to determine whether interphase fluorescence in situ hybridization (FISH) can be used to visualize chromosomal aberrations in bronchoscopically gained cells from lung cancer patients and could eventually become a complementary technique to conventional cytology.
Methods: We examined 20 cancerous specimens (10 primary tumors, 10 malignant effusions) of 18 lung cancer patients by FISH with DNA probes specific for chromosomes 3, 8, 11, 12, 17, and 18. From five additional patients, endobronchial brushings and/or forceps biopsy specimens were subjected to interphase FISH analysis.
Results: In all primary tumors and malignant effusions, highly aneuploid cells were detectable by FISH. Chromosomal aberrations always consisted of gains of chromosomal signal numbers, and all chromosomes were found to be aneuploid to a similar extent. Using chromosomal aneuploidy as a marker of malignancy, material obtained by bronchoscopy was then examined for the presence of malignant cells. In all specimens, evidence for malignancy was obtained by FISH, including three specimens in which cells appeared to be normal or reactively changed by cytologic criteria.
Conclusion: We conclude that interphase FISH is useful in detecting aneuploidy associated with malignancy in bronchoscopically gained cells that do not clearly meet the criteria of malignancy by conventional cytologic study.