Document Detail

Genetic heterogeneity in uveal melanoma assessed by multiplex ligation-dependent probe amplification.
MedLine Citation:
PMID:  20484589     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To determine intratumor genetic heterogeneity in uveal melanoma (UM) by multiplex ligation-dependent probe amplification (MLPA) in formalin-fixed, paraffin-embedded (FFPE) tumor tissues. METHODS: DNA was extracted from whole tumor sections and from two to nine different areas microdissected from 32 FFPE UMs. Thirty-one loci on chromosomes 1, 3, 6, and 8 were tested with MLPA for copy number changes. The tumor was considered heterogeneous at a locus if (1) the difference in dosage quotients (DQs) of any two areas was 0.2 or more, and (2) the DQs of the areas belonged to different ranges. RESULTS: Comparison of MLPA data obtained from microdissected areas of the UMs showed heterogeneity in 1 to 26 examined loci in 24 (75%) tumors, with only 25% of the tumors being homogeneous. Intratumor heterogeneity of 3p12.2, 6p21.2, and 8q11.23 was most common, occurring in >30% of the UMs. Gains of chromosome 3 were observed in four UMs, with three of these tumors showing the highest degree of heterogeneity. Copy number variation was associated with differences in tumor cell type, but not with differences in tumor pigmentation or reactive inflammation. UMs with genetic heterogeneity across multiple sample sites showed equivocal MLPA results when the whole tumor section was examined. These results suggest that different clones dilute MLPA results. CONCLUSIONS: Heterogeneity of chromosomal abnormalities of chromosomes 1, 3, 6, and 8 is present in most UMs. This heterogeneity causes equivocal MLPA results. One random tumor sample may not be representative of the whole tumor and, therefore, may be insufficient for prognostic testing.
Justyna Dopierala; Bertil E Damato; Sarah L Lake; Azzam F G Taktak; Sarah E Coupland
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-05-19
Journal Detail:
Title:  Investigative ophthalmology & visual science     Volume:  51     ISSN:  1552-5783     ISO Abbreviation:  Invest. Ophthalmol. Vis. Sci.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-29     Completed Date:  2010-10-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7703701     Medline TA:  Invest Ophthalmol Vis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4898-905     Citation Subset:  IM    
Department of Pathology, School of Cancer Studies, University of Liverpool, Liverpool, UK.
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MeSH Terms
Aged, 80 and over
Chromosome Aberrations*
Chromosomes, Human, Pair 1 / genetics
Chromosomes, Human, Pair 3 / genetics
Chromosomes, Human, Pair 6 / genetics
Chromosomes, Human, Pair 8 / genetics
DNA Copy Number Variations
DNA, Neoplasm / genetics
Genetic Heterogeneity*
Melanoma / genetics*
Middle Aged
Nucleic Acid Amplification Techniques / methods*
Oligonucleotide Probes
Polymerase Chain Reaction
Uveal Neoplasms / genetics*
Reg. No./Substance:
0/DNA, Neoplasm; 0/Oligonucleotide Probes

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