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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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© ARVO (1962-2015); The Authors (2016-present)
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.
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.
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.
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.
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