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T. A. McCannel, B. L. Burgess, N. P. Rao, B. R. Straatsma; Sequential Probing for Subtelomeric Arms of Chromosome 6 and Centromeric Chromosome 3 in Choroidal Melanoma Fine Needle Aspiration Biopsies. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3373.
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© ARVO (1962-2015); The Authors (2016-present)
To determine if the prognostic value of monosomy 3 testing in fine needle aspiration biopsies (FNAB) of choroidal melanoma can be improved by the inclusion of fluorescent probes specific for the subtelomeric regions of chromosome 6pq.
In patients clinically diagnosed with choroidal melanoma, FNAB was obtained at the time of radioactive Iodine-125 plaque placement. Slide smears of aspirates were sequentially probed for the subtelomeric regions of chromosome 6pq and the centromeric region of chromosome 3 and scored for the number of fluorescent signals in up to 300 nuclei per smear. Results were compared with high density mapping array findings.
Technique of serial serial probing was feasible for samples. Results included patients with monosomy 3, 6p-gain, monosomy 3 and 6p-gain, monosomy 3 and 6q-loss, and normal signal pattern for both chromosomes. In a case where monosomy 3 and 6p-gain were detected concurrently, the aberrations were found to occur in the same nuclei and did not exist as two separate cell populations. Additionally, positive findings of 6p-gain in the absence of monosomy 3 were determined for at least two tumors.
The inclusion of chromosome 6 testing allows for a positive finding for the presence of tumor in FISH-probed aspirates in which monosomy 3 is not detected. This provides better prognostic information for tumors with lower likelihood of metastatic outcome. The combined use of FISH probes for the centromeric region of chromosome 3 and the subtelomeric regions of 6pq can identify the homogeneity in tumors that contain hybrid monosomy 3 and 6p-gain signal pattern that microarrays cannot address. Additionally, the use of these combined probes reduces the number of tumor samples that are found to have uninformative FISH results.
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