[Molecular cytopathology of lung cancer--prevalence of genetic alterations and their role in the development of molecular biomarkers].
Carcinogenesis of lung cancer proceeds via a complex process that involves multiple genetic abnormalities, which do not necessarily have a linear progression. Genetic alterations include aneuploidy, deletions and amplifications of chromosomal regions, loss of heterozygosity (LOH), microsatellite alterations, point mutations and aberrant promoter methylation. There is considerable effort to use these genetic alterations as molecular biomarkers for early cancer diagnosis applying different approaches. An ideal tumor marker should be highly sensitive, tumor specific, easily to handle and non-cost intensive. While previous studies used screening for mutations, LOH and microsatellite alterations, more recent strategies concentrate on multicolor fluorescence in situ hybridization (FISH) and aberrant promoter methylation. Since in general the genetic alterations are prone to be more extensive in tumor cells as compared to non-tumor cells, methods that provide quantitative data (e.g., methylation specific real-time PCR) are likely to improve specificity. Consequently, molecular biomarkers could constribute to a more accurate risk assessment in carcinogen exposed individuals and early molecular cytologic diagnosis of precancerous lesions and cancers of the lung.
Grote
H J
HJ
Institut für Cytopathologie, Heinrich-Heine-Universität, Düsseldorf. grote@med.uni-duesseldorf.de
Schmiemann
V
V
Böcking
A
A
D022981:Allelic Imbalance; D019175:DNA Methylation; D004273:DNA, Neoplasm; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019656:Loss of Heterozygosity; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology*; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D017354:Point Mutation; D011401:Promoter Regions, Genetic
D004273:DNA, Neoplasm; D005819:Genetic Markers