June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Genome-wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High Resolution Single Nucleotide Polymorphism Array
Hiroki Takahashi; Yoshihiko Usui; Ryosuke Mitsuhashi; Naoyuki Yamakawa; Aiko Sato-Otsubo; Yusuke Sato; Seishi Ogawa; Ayako Arai; Hiroshi Goto
Author Affiliations & Notes
  • Hiroki Takahashi
    Department of Ophthalmology, Tokyo Medical University, Tokyo, Japan
  • Yoshihiko Usui
    Department of Ophthalmology, Tokyo Medical University, Tokyo, Japan
  • Ryosuke Mitsuhashi
    Department of Ophthalmology, Tokyo Medical University, Tokyo, Japan
  • Naoyuki Yamakawa
    Department of Ophthalmology, Tokyo Medical University, Tokyo, Japan
  • Aiko Sato-Otsubo
    Cancer Genomics Project, The University of Tokyo, Tokyo, Japan
  • Yusuke Sato
    Cancer Genomics Project, The University of Tokyo, Tokyo, Japan
  • Seishi Ogawa
    Cancer Genomics Project, The University of Tokyo, Tokyo, Japan
  • Ayako Arai
    Department of Hematology, Tokyo Medical and Dental University, Tokyo, Japan
  • Hiroshi Goto
    Department of Ophthalmology, Tokyo Medical University, Tokyo, Japan
  • Footnotes
    Commercial Relationships Hiroki Takahashi, None; Yoshihiko Usui, None; Ryosuke Mitsuhashi, None; Naoyuki Yamakawa, None; Aiko Sato-Otsubo, None; Yusuke Sato, None; Seishi Ogawa, None; Ayako Arai, None; Hiroshi Goto, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6213. doi:
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      Hiroki Takahashi, Yoshihiko Usui, Ryosuke Mitsuhashi, Naoyuki Yamakawa, Aiko Sato-Otsubo, Yusuke Sato, Seishi Ogawa, Ayako Arai, Hiroshi Goto; Genome-wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High Resolution Single Nucleotide Polymorphism Array. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6213.

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Abstract

Purpose: Ocular adnexal lymphoproliferative disorders include malignant lymphoma and benign lymphoprolifelative disease. The aim of this study is to identify the genomic signature of these disorders, especially ocular adnexal mucosa-associated lymphoid tissue (MALT) lymphoma, IgG4-related ophthalmic disease (IgG4-ROD), and reactive lymphoid hyperplasia (RLH), using high-resolution single nucleotide polymorphism array.

Methods: Thirty-nine MALT lymphomas (22 conjunctival MALT lymphomas and 17 orbital MALT lymphomas), 13 cases of IgG4-ROD, and 2 cases of RLH were studied. To determine the genetic alternations, DNA was extracted from tumor tissues and single nucleotide polymorphism array experiments were performed according to the standard protocols for the Affymetrix GeneChip Human Mapping 250 K NSP arrays. The array data were investigated using Copy Number Analysis for GeneChips (CNAG) software for allele-specific copy number analysis. The study was approved by institutional ethical committees.

Results: In cases of MALT lymphoma, chromosomal aberrations were detected at chromosomes 3 (36%), 6 (20%), 18 (18%) and 21 (10%). Trisomy 3 was observed in 10 cases (26%) of MALT lymphoma. Uniparental disomy (UPD) in chromosomes 3 and 6 were frequently found in MALT lymphoma. Chromosomal aberrations were found in about 76% of orbital MALT lymphomas, and the frequency was higher than in conjunctival MALT lymphomas (40%). No chromosomal aberrations were found in IgG4-ROD and RLH.

Conclusions: In addition to the previously reported chromosomal aberrations, we detected novel chromosomal aberrations in MALT lymphoma. MALT lymphoma had different patterns of chromosomal aberrations. These findings may allow appropriate treatments for ocular adnexal lymphoproliferative disorders according to the results of chromosomal aberration pattern.

Keywords: 535 gene microarray • 744 tumors • 604 mutations  
© 2013, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
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