Concordant chromosome 3 results in paired choroidal melanoma biopsies and subsequent tumour resection specimens. Issue 10 (23rd July 2015)

• Record Type: Journal Article
• Authors: Coupland, Sarah E; Kalirai, Helen; Ho, Vivian; Thornton, Sophie; Damato, Bertil E; Heimann, Heinrich
• Is Part Of: British journal of ophthalmology. Volume 99:Issue 10(2015)
• Page Start: 1444
• Page End: 1450
• Publication Date: 2015-07-23
• Subjects: Choroid -- Neoplasia -- Pathology; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjophthalmol-2015-307057
• Languages: English
• ISSNs: 0007-1161

Abstract

Abstract : Background/aim: The study's aim was to compare chromosome 3 aberrations of choroidal melanoma (CM) as determined by multiplex ligation dependent probe amplification (MLPA) or microsatellite analysis (MSA) in intraocular tumour biopsies with those results obtained from subsequent endoresection/enucleation of the same CM. Methods: A retrospective cohort of 28 patients with CM seen between 2007 and 2014 at the Liverpool Ocular Oncology Centre was analysed. Prognostic genetic testing, for chromosome 3 status, was performed on all tumour specimens, either by MLPA or MSA, depending on DNA yield. In nine cases genetic testing was performed on a sample taken after radiotherapy; four of these had genetic information pre- and post-radiotherapy. Results: Fourteen biopsy specimens were analysed by MLPA and 14 by MSA. Twenty-seven endoresection or enucleation specimens were analysed by MLPA, and a single enucleation specimen by MSA. Chromosome 3 data showed prognostic concordance for the patient-matched samples in all 28 cases including 4 cases where samples were taken pre pre- and post radiotherapy. Thirteen cases were classified as monosomy 3 and 12 as disomy 3. Two cases had a loss of chromosome arm 3q in both samples and a single case showed loss of 3p in the biopsy sample with complete monosomy 3 in the subsequent enucleation sample taken 5 months later. Conclusions: Intraocular biopsy of CM yields similar prognostic information to larger surgical specimens. Initial evidence, that genetic testing can be successfully conducted post radiotherapy, is also provided. Trial registration number: NITRO trial, ISRCTN35236442 .