Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array.

Abstract

PURPOSE:

We identified the genomic signature of ocular adnexal lymphoproliferative disorders (LPDs), especially ocular adnexal mucosa-associated lymphoid tissue (MALT) lymphoma, IgG4-related ophthalmic disease (IgG4-ROD), reactive lymphoid hyperplasia (RLH), and diffuse large B-cell lymphoma (DLBCL).

METHODS:

We included 52 subjects with ocular adnexal LPDs (13 orbital MALT lymphomas, 16 conjunctival MALT lymphomas, 13 IgG4-RODs, 4 RLHs, and 6 DLBCLs) who had been treated at the Tokyo Medical University Hospital from 2008 to 2012. Genomic DNA was extracted from the tumor tissues and subjected to high-resolution single nucleotide polymorphism array (SNP-A) karyotyping using GeneChip Human Mapping 250K SNP arrays. The array data were investigated using Copy Number Analysis for GeneChips (CNAG) software.

RESULTS:

In ocular adnexal MALT lymphomas, the most frequent copy number (CN) gain region was trisomy 3 detected in 31% (9/29), followed by trisomy 18 in 17% (5/29), and 6p and 21q in 14% (4/29). The most frequent CN loss regions were 6q and 9p, detected in 7% (2/29). Uniparental disomy was detected on 6q in 14% (4/29), followed by 3q in 10% (3/29). Copy number variations (CNVs) were not detected in IgG4-RODs and RLHs. Conversely, CNVs were more frequent in DLBCLs than in ocular adnexal MALT lymphomas. Copy number variations were detected in 77% (10/13) of orbital MALT lymphomas and in 67% (11/16) of conjunctival MALT lymphomas.

CONCLUSIONS:

High-resolution single nucleotide polymorphism array is a useful method for discriminating ocular adnexal lymphomas from benign LPDs. The differences in the chromosomal abnormality patterns may reflect the activity of ocular adnexal LPDs.

• Authors: Hiroki Takahashi, Yoshihiko Usui, Shunichiro Ueda, Naoyuki Yamakawa, Aiko Sato-Otsubo, Yusuke Sato, Seishi Ogawa, Hiroshi Goto
• Journal: Investigative ophthalmology & visual science (Invest Ophthalmol Vis Sci) Vol. 56 Issue 6 Pg. 4156-65 (Jun 2015) ISSN: 1552-5783 [Electronic] United States
• PMID: 26120819 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adult
• Aged
• Aged, 80 and over
• DNA Copy Number Variations
• Eye Neoplasms (genetics)
• Female
• Genome-Wide Association Study
• Humans
• Lymphoma, B-Cell, Marginal Zone (genetics)
• Lymphoma, Large B-Cell, Diffuse (genetics)
• Lymphoproliferative Disorders (genetics)
• Male
• Microarray Analysis
• Middle Aged
• Polymorphism, Single Nucleotide
• Pseudolymphoma (genetics)
• Young Adult