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Sarah E Coupland, Helen Kalirai, Vivian Ho, Bertil E Damato, Heinrich Heimann; Comparison of uveal melanoma prognostication test results of the 'paired' intraocular biopsy with the subsequently enucleated eye. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5079.
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© ARVO (1962-2015); The Authors (2016-present)
To compare the accuracy of genetic results for chromosome 3 aberrations from a fine needle aspiration biopsy (FNAB) with those from a subsequent enucleation specimen in uveal melanoma (UM) patients who underwent prognostic testing in Liverpool, UK.
UM patients who underwent routine genetic testing for prognostic purposes of an initial biopsy specimen and a subsequent enucleation specimen between 2010 and 2013 were included in this study. Depending on DNA yield, specimens underwent molecular testing by either microsatellite analysis (MSA) or multiplex ligation dependent probe amplification (MLPA). Data for chromosome 3 status were then compared between the ‘paired’ tumour samples. During this period of 3 years, 111 UM patients seen at the Liverpool Ocular Oncology Centre had undergone genetic tumour testing by MSA, and an additional 429 patients by MLPA.
Paired biopsy and enucleation data were available for 17 patients (5 female and 12 male). The median largest basal diameter of the tumours was 15.8mm (range 9.2-20.4mm). The median follow-up time was 1.5 years (range 0.15-3.3 years). Epithelioid cells were present in nine tumours. Seven biopsy specimens were analysed by MLPA, the remainder being analysed by MSA. All seventeen enucleation specimens were analysed by MLPA for chromosomes 1p, 3, 6 and 8. Chromosome 3 data showed complete concordance between the biopsy samples and enucleated eyes in all 17 cases. Eight patients were classified as monosomy 3 (M3) and nine as disomy 3. These results were incorporated for patient further management purposes in the Liverpool Uveal Melanoma Prognostication Online model. During the follow-up period, one of the eight patients with a tumour classified as M3, died at the time of data analysis.
It is feasible to obtain DNA of sufficient quality and quantity from FNAB specimens of UM with no loss of prognostic accuracy compared with DNA extracted from the enucleated eyes. In this cohort, tumour cell- or clonal heterogeneity did not play a major role in affecting the results.
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