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Marina Ogawa, Yoshihiko Usui, Naoyuki Yamakawa, Kazuhiko Umazume, Kinya Tsubota, Rei Nemoto, Hiroshi Goto; Genetic alterations in IgG4-related ophthalmic disease identified using next-generation sequencing. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1792.
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IgG4-related ophthalmic disease is a relatively new disease entity and remains to be elucidated. Next-generation sequencing, recently applied to clinical use, is able to analyze an enormous number of nucleic acid sequence all at once. Furthermore, it is capable of analyzing unknown sequences comprehensively. We report our analysis using a next-generation sequencer of genetic alterations in biopsy samples for the purpose of diagnosing IgG4-related ophthalmic disease.
This study included 10 patients who were diagnosed with IgG4-related ophthalmic disease at Tokyo Medical University Hospital. These cases comprised 5 males and 5 females with an average age of 60.4 years. The average serum IgG4 level was 452 mg/dl. Genome DNA was extracted from tumor biopsy samples and peripheral blood, and analyzed using a MiSeq Sequencing System with TruSight One sequencing panel (Illumina) which targets 4,813 genes. Variant Studio software was used to analyze the data.
We detected 9,589 genes from tumors and 9,617 genes from peripheral blood using next-generation sequencing. Alterations in TRIO binding protein (TRIOBP), Inverted formin 2 (INF2) and Lysine(K)-specific demethylase 6B (KDM6B) were found in all samples from the 10 patients, while irregularity in Teashirt zinc finger 1 (TSHZ1) was observed in 8 patients.
Using new-generation sequencing, we identified novel genetic alterations in IgG4-related ophthalmic disease. The findings in this study may contribute to discover novel biomarkers and to establish appropriate treatment in the future.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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