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Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array.
Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):4156-65.IO

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+Show Affiliations

Department of Ophthalmology Tokyo Medical University, Tokyo, Japan.Department of Ophthalmology Tokyo Medical University, Tokyo, Japan.Department of Ophthalmology Tokyo Medical University, Tokyo, Japan.Department of Ophthalmology Tokyo Medical University, Tokyo, Japan.Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.Department of Ophthalmology Tokyo Medical University, Tokyo, Japan.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26120819

Citation

Takahashi, Hiroki, et al. "Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array." Investigative Ophthalmology & Visual Science, vol. 56, no. 6, 2015, pp. 4156-65.
Takahashi H, Usui Y, Ueda S, et al. Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array. Invest Ophthalmol Vis Sci. 2015;56(6):4156-65.
Takahashi, H., Usui, Y., Ueda, S., Yamakawa, N., Sato-Otsubo, A., Sato, Y., Ogawa, S., & Goto, H. (2015). Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array. Investigative Ophthalmology & Visual Science, 56(6), 4156-65. https://doi.org/10.1167/iovs.15-16382
Takahashi H, et al. Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array. Invest Ophthalmol Vis Sci. 2015;56(6):4156-65. PubMed PMID: 26120819.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array. AU - Takahashi,Hiroki, AU - Usui,Yoshihiko, AU - Ueda,Shunichiro, AU - Yamakawa,Naoyuki, AU - Sato-Otsubo,Aiko, AU - Sato,Yusuke, AU - Ogawa,Seishi, AU - Goto,Hiroshi, PY - 2015/6/30/entrez PY - 2015/6/30/pubmed PY - 2015/9/4/medline SP - 4156 EP - 65 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 56 IS - 6 N2 - 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. SN - 1552-5783 UR - https://www.unboundmedicine.com/medline/citation/26120819/Genome_Wide_Analysis_of_Ocular_Adnexal_Lymphoproliferative_Disorders_Using_High_Resolution_Single_Nucleotide_Polymorphism_Array_ L2 - https://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.15-16382 DB - PRIME DP - Unbound Medicine ER -