title: Multiplex ligation-dependent probe amplification analysis of uveal melanoma with extraocular extension demonstrates heterogeneity of gross chromosomal abnormalities.
abstract: OBJECTIVE
  To determine whether biopsy of extraocular extension of uveal melanoma (UM) is representative of the intraocular tumor with respect to copy number of chromosomes 1p, 3, 6, and 8.
  
  
  METHODS
  Multiplex ligation-dependent probe amplification (MLPA) using the P027 assay was performed on formalin-fixed, paraffin-embedded sections from 10 UMs. The intraocular and extraocular parts of the tumor were microdissected and analyzed separately.
  
  
  RESULTS
  Of the 10 UMs analyzed, seven showed heterogeneity for at least one chromosome arm; the most frequently heterogeneous chromosome arm was 6p. No heterogeneity of 8p was observed between the intraocular and extraocular areas of the tumor. One tumor showed monosomy 3 in the intraocular area of the tumor but loss of the 3q arm only for the extraocular area.
  
  
  CONCLUSIONS
  Biopsy of an extraocular tumor extension may not be representative of the underlying UM with respect to chromosome 1p, 3, 6, and 8q abnormalities detectable by MLPA. These results suggest that for UM with extraocular extension, both the intraocular and the extraocular parts of the tumor should be sampled for accurate genetic prognostic testing.
authors.affiliation: Department of Molecular and Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom. s.l.lake@liv.ac.uk
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Lake
authors.forename: Bertil E
authors.initials: BE
authors.lastname: Damato
authors.forename: Justyna
authors.initials: J
authors.lastname: Dopierala
authors.forename: Maria M
authors.initials: MM
authors.lastname: Baudo
authors.forename: Azzam F G
authors.initials: AF
authors.lastname: Taktak
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Coupland
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D015342:DNA Probes; D005260:Female; D018628:Gene Dosage; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011379:Prognosis; D014604:Uveal Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D015342:DNA Probes; D005819:Genetic Markers