title: Chromosome 3 status in uveal melanoma: a comparison of fluorescence in situ hybridization and single-nucleotide polymorphism array.
abstract: OBJECTIVE
  To compare fluorescence in situ hybridization (FISH) using a centromeric probe for chromosome 3 (CEP3) and 3p26 locus-specific probe with single-nucleotide polymorphism array (SNP-A) analysis in the detection of high-risk uveal melanoma.
  
  
  METHODS
  Fifty cases of uveal melanoma (28 males, 22 females) treated by enucleation between 2004 and 2010 were analyzed. Fresh tissue was used for FISH and SNP-A analysis. FISH was performed using a CEP3 and a 3p26 locus-specific probe. Tumor size, location, and clinical outcome were recorded during the 7-year study period (median follow-up: 35.5 months; mean: 38.5 months). The sensitivity, specificity, positive predictive value, and negative predictive value were calculated.
  
  
  RESULTS
  Monosomy 3 was detected by FISH-CEP3 in 27 tumors (54%), FISH-3p26 deletion was found in 30 (60%), and SNP-A analysis identified 31 (62%) of the tumors with monosomy 3. Due to technical failures, FISH and SNP-A were noninterpretable in one case (2%) and two cases (4%), respectively. In both cases of SNP-A failure, tumors were positive for FISH 3p26 deletion and in a single case of FISH failure, monosomy 3 was found using SNP-A. No statistically significant differences were observed in any of the sensitivity or specificity measures.
  
  
  CONCLUSIONS
  For prediction of survival at 36 months, FISH CEP3, FISH 3p26, and SNP-A were comparable. A combination of prognostication techniques should be used in an unlikely event of technical failure (2%-4%).
authors.affiliation: Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA. singha@ccf.org
authors.forename: Arun D
authors.initials: AD
authors.lastname: Singh
authors.forename: Mary E
authors.initials: ME
authors.lastname: Aronow
authors.forename: Yang
authors.initials: Y
authors.lastname: Sun
authors.forename: Gurkan
authors.initials: G
authors.lastname: Bebek
authors.forename: Yogen
authors.initials: Y
authors.lastname: Saunthararajah
authors.forename: Lynn R
authors.initials: LR
authors.lastname: Schoenfield
authors.forename: Charles V
authors.initials: CV
authors.lastname: Biscotti
authors.forename: Raymond R
authors.initials: RR
authors.lastname: Tubbs
authors.forename: Pierre L
authors.initials: PL
authors.lastname: Triozzi
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D012307:Risk Factors; D013997:Time Factors; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D055815:Young Adult; D000098943:Uveal Melanoma