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Detection of chromosomal aberrations in cytologic brush specimens from head and neck squamous cell carcinoma
J A Veltman1, A H Hopman, F J Bot
1Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Maastricht and University of Maastricht, The Netherlands.
Background:
Detection of genetic changes in the mucosa of the upper aerodigestive tract may provide a target for the screening of cytologic specimens to identify premalignant transformation in this region. In this pilot study, the feasibility of the fluorescence in situ hybridization (FISH) technique to detect genetically aberrant cells in brush specimens was evaluated.
Methods:
Brush specimens taken from the tumors of 20 patients with head and neck squamous cell carcinoma (HNSCC) and from the normal mucosa of 8 control patients were analyzed by FISH using DNA probes for the chromosomes 1 and 7. The FISH results were compared with DNA flow cytometry and FISH results of the solid tumor specimens.
Results:
The results of this study showed that 15 of the 20 tumor brush specimens contained numeric chromosomal aberrations in at least 5% of the cells collected. Chromosomal aberrations were detected in all brush specimens taken from tumors that were DNA aneuploid and showed aneusomy. The presence of these aberrations correlated well with the classification "suspicious for malignancy," which was based on Papanicolaou stained slides of the same specimens. In the control group the percentage of chromosomally aberrant cells did not exceed 2%; in addition, no suspiciously malignant cells were observed in this group.
Conclusions:
This study reveals that the FISH technique can be applied diagnostically to brush specimens of HNSCC. The presence of chromosomal aberrations in > 5% of the cells in these specimens can be considered as a marker for malignancy.