title: Concordant chromosome 3 results in paired choroidal melanoma biopsies and subsequent tumour resection specimens.
abstract: OBJECTIVE
  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.
  
  
  BACKGROUND
  NITRO trial, ISRCTN35236442.
authors.affiliation: Department of Pathology, Royal Liverpool and Broadgreen University Hospital Trust (RLBUHT), University of Liverpool, Liverpool, UK.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Coupland
authors.affiliation: Department of Pathology, Royal Liverpool and Broadgreen University Hospital Trust (RLBUHT), University of Liverpool, Liverpool, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Kalirai
authors.affiliation: Department of Ophthalmology, Royal Liverpool and Broadgreen University Hospital Trust (RLBUHT), Liverpool, UK.
authors.forename: Vivian
authors.initials: V
authors.lastname: Ho
authors.affiliation: Department of Pathology, Royal Liverpool and Broadgreen University Hospital Trust (RLBUHT), University of Liverpool, Liverpool, UK.
authors.forename: Sophie
authors.initials: S
authors.lastname: Thornton
authors.affiliation: Department of Ophthalmology, Royal Liverpool and Broadgreen University Hospital Trust (RLBUHT), Liverpool, UK Ocular Oncology Service, University of California, San Francisco, California, USA.
authors.forename: Bertil E
authors.initials: BE
authors.lastname: Damato
authors.affiliation: Department of Ophthalmology, Royal Liverpool and Broadgreen University Hospital Trust (RLBUHT), Liverpool, UK.
authors.forename: Heinrich
authors.initials: H
authors.lastname: Heimann
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002829:Choroid / Q000473:pathology*; D002830:Choroid Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002893:Chromosomes, Human, Pair 3 / Q000737:chemistry*; D004273:DNA, Neoplasm / Q000235:genetics*; D015353:Eye Enucleation; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies; D014604:Uveal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000098943:Uveal Melanoma
chemical_list: D004273:DNA, Neoplasm
keywords: Choroid; Neoplasia; Pathology