High-resolution genomic copy number profiling of primary intraocular lymphoma by single nucleotide polymorphism microarrays.
Bottom Line: Large CN loss in 6q was detected in three of four PIOL patients who had early CNS development and short survival periods, whereas long-term survivors did not have such deletions.The results suggest that IOCNSL is a highly malignant form of PIOL that infiltrates into the CNS at an early stage.They also indicate that genetic differences between PIOL and primary CNS lymphoma need to be clarified.
Affiliation: Department of Hematology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.Show MeSH
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Mentions: Copy number (CN) changes of all IOL samples are shown in Figures1 and 2. As in our previous report, we defined CN changes as CN gains, losses, as well as neutral loss of heterozygosity involving >3 Mb segments (Fig.2). As shown in Figures1 and 2(a), the most frequent CN gain region in PIOL was 1q, detected in 81% (13/16) of cases, followed by 18q and 19q in 69% (11/16), 12q in 63% (10/16), 7q and 11q in 56% (9/16), and 3q, 10q, and 19p in 50% (8/16). As shown in Figures1 and 2(b,c), the most frequent CN loss in PIOLs was on 6q (44%, 7/16), whereas uniparental disomy was detected on various regions in only patient.
Affiliation: Department of Hematology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.