Concordant chromosome 3 results in paired choroidal melanoma biopsies and subsequent tumour resection specimens

Abstract

NITRO trial, ISRCTN35236442.

Genetic findings in treatment-naïve and proton-beam-radiated iris melanomas: Table 1

“…Most importantly, we also demonstrate for the first time in IM that, consistent with our previous data for choroidal melanomas,24 genetic testing is possible following PBR. In earlier studies, genetic testing was performed on untreated IM specimens only, taken either intraoperatively as fine needle aspirates prior to tumour removal or plaque brachytherapy, from IM resections or from enucleations 6 8 23.…”

“…MLPA data for chromosomes 1p, 6 and 8 were available for 18 cases, and showed gain of 6p in 4 cases and polysomy 8q in a single case (table 1). As previously reported for choroidal melanoma, genetic testing in IM was successful in all samples analysed post-PBR 24. No BRAF codon 600 mutations were found in the four IM cases for which there was sufficient DNA to perform this test.…”

Comparison of Gene Expression Profiling and Chromosome 3 Analysis by Fluorescent in situ Hybridization and Multiplex Ligation Probe Amplification in Fine-Needle Aspiration Biopsy Specimens of Uveal Melanoma

“…Tumor heterogeneity may possibly account for the discordant test results [1,22,23,24,25]. Each biopsy sample was obtained by an independent needle pass.…”

Prognostic biopsy of choroidal melanoma: an optimised surgical and laboratory approach

“…Chromosomal analysis was performed by multiplex ligation-dependent probe amplification (MLPA; MRC-Holland) or, if the DNA yield was <100 ng, by microsatellite analysis (MSA). Methods for DNA extraction, quantification, quality control and MLPA or MSA have been described 6. In the case of a large epithelioid ciliary body melanoma with disomy 3 MLPA results occurring, we would perform additional MSA where possible to exclude the possibility of an isodisomy 3, as MLPA cannot detect this anomaly.…”